GLUT1 Deficiency Syndrome (GLUT1DS) refers to a group of rare genetic disorders that affect the function of the GLUT1 gene. This gene is responsible for producing a protein called glucose transporter type 1 (GLUT1), which plays a crucial role in transporting glucose into the brain. When there is a mutation in the GLUT1 gene, it can result in a deficiency of this protein, causing a range of neurological symptoms.

Patients with GLUT1DS may experience developmental delay, epilepsy, and a variety of neurological problems. The symptoms can vary widely from one individual to another, but they often include seizures, head tremors, speech difficulties, and abnormal muscle tensing. The severity of the symptoms can also vary, ranging from mild to severe.

GLUT1DS is a rare condition, with an estimated frequency of less than 1 in 90,000 individuals. It can be inherited in an autosomal dominant or autosomal recessive pattern, depending on the specific type of GLUT1DS. The inheritance pattern determines whether one or both parents need to carry the mutated gene for a child to be affected.

There are different types of GLUT1DS, each caused by a different mutation in the GLUT1 gene. Scientific studies and research have expanded our understanding of the condition, allowing for better diagnosis and management of patients. Genetic testing is now available to confirm the diagnosis of GLUT1DS.

Resources such as the Genetic and Rare Diseases Information Center (GARD) and the advocacy center for rare diseases (Genetic Alliance) provide additional information and support for patients and families affected by GLUT1DS. Clinical trials and ongoing research are also being conducted to learn more about the condition and develop improved treatments. Furthermore, there are several articles and references available on PubMed and OMIM, which offer valuable information about GLUT1 deficiency syndrome.

In conclusion, GLUT1 deficiency syndrome is a rare genetic condition that affects the function of the GLUT1 gene, resulting in neurological symptoms such as developmental delay, epilepsy, and abnormal muscle movement. The condition is caused by mutations in the GLUT1 gene, which lead to a deficiency of the GLUT1 protein. Despite its rarity, scientific research and advocacy efforts are expanding our knowledge and resources for GLUT1DS.

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Frequency

GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic disorder that affects the glucose transporter type 1 (GLUT1) gene function in the blood-brain barrier. This condition is associated with various neurological symptoms, including epilepsy, developmental delay, and movement disorders.

GLUT1DS has a frequency of approximately 1 in 90,000 to 1 in 150,000 individuals worldwide. It is a heterogeneous disorder with different types and severity of symptoms. The clinical presentation and severity can vary widely between patients.

Studies have shown that GLUT1DS is caused by mutations in the SLC2A1 gene, which codes for the glucose transporter protein. Inheritance of GLUT1DS is typically autosomal dominant, but rare cases of autosomal recessive inheritance have been reported.

GLUT1DS can be diagnosed through genetic testing to identify mutations in the SLC2A1 gene. This testing can confirm the diagnosis and help differentiate GLUT1DS from other neurological diseases with similar clinical features.

For more information about GLUT1 deficiency syndrome, including patient resources, advocacy, and research, visit the following websites:

• OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of genetic disorders and associated genes.
• GLUT1 Deficiency Foundation: a nonprofit organization dedicated to supporting patients and families affected by GLUT1DS.
• ClinicalTrials.gov: a database of ongoing clinical trials for various diseases, including GLUT1DS.
• PubMed: a database of scientific articles and research studies on GLUT1DS and related topics.

In summary, GLUT1 deficiency syndrome is a rare genetic disorder with a frequency of approximately 1 in 90,000 to 1 in 150,000 individuals worldwide. It is caused by mutations in the SLC2A1 gene, which affects the glucose transporter type 1 (GLUT1) gene function in the blood-brain barrier. Diagnosis can be confirmed through genetic testing, and there are resources available for support and further research.

Causes

The GLUT1 deficiency syndrome, also known as GLUT1DS, is a rare genetic disorder that affects the glucose transporter 1 (GLUT1) protein in the blood-brain barrier. This condition is associated with various neurological symptoms and can have different types and patterns of inheritance.

The primary cause of GLUT1 deficiency syndrome is mutations in the SLC2A1 gene that encodes the GLUT1 protein. These mutations affect the function of the GLUT1 protein, leading to a reduced ability to transport glucose across the blood-brain barrier. As a result, the brain does not receive an adequate supply of glucose, which is its primary source of energy.

There are different types of GLUT1 deficiency syndrome, including the classic or type 1 form, which is the most common. Other types include types 2, 3, and 4, which have varying clinical features and severity.

The inheritance pattern of GLUT1 deficiency syndrome can be either autosomal dominant or autosomal recessive, depending on the specific genetic mutation involved. Autosomal dominant inheritance means that an affected individual has a 50% chance of passing the mutated gene to each of their children. Autosomal recessive inheritance requires two copies of the mutated gene, one from each parent, to develop the condition.

It is important to note that GLUT1 deficiency syndrome is a rare disorder, and its prevalence is not well-established. The frequency of this condition in the general population is estimated to be less than 1 in 100,000 individuals.

Research and scientific studies conducted on GLUT1 deficiency syndrome have significantly expanded our understanding of the condition. Clinical trials and genetic testing play a crucial role in diagnosing and managing the syndrome. Additional information, resources, and support can be found through advocacy organizations, research centers, and genetic testing laboratories.

For more information about causes, clinical trials, and other related topics, you can visit the following resources:

• ClinicalTrials.gov: A registry of clinical trials providing information on ongoing and completed studies related to GLUT1 deficiency syndrome and other disorders.
• PubMed: A database of scientific publications with research articles and reviews on GLUT1 deficiency syndrome.
• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including GLUT1 deficiency syndrome.
• Advocacy and support organizations, such as the Glut1 Deficiency Foundation, that provide resources, information, and support for patients and families affected by GLUT1 deficiency syndrome.

Learn more about the gene associated with GLUT1 deficiency syndrome

GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic neurological condition characterized by impaired glucose transport across the blood-brain barrier. This condition is caused by mutations in the gene called GLUT1 (glucose transporter 1).

The GLUT1 gene is responsible for producing a protein called the glucose transporter type 1 (GLUT1), which is essential for the transport of glucose from the bloodstream into the brain. The brain relies heavily on glucose as its primary source of energy, and the GLUT1 protein plays a crucial role in ensuring an adequate supply of glucose to the brain.

Patients with GLUT1DS typically experience a range of symptoms, including seizures (often paroxysmal), delayed development, movement disorders, and neurological abnormalities. The severity and pattern of symptoms can vary among individuals with GLUT1DS.

Research on GLUT1DS and the GLUT1 gene is ongoing, and there are numerous scientific articles and resources available to learn more about this condition. PubMed is a popular database that provides access to a vast collection of scientific articles on GLUT1DS and associated topics. Some of the key researchers and authors in this field include Verbeek, Wang, Willemsen, Webb, and Tensing.

In addition to scientific articles, there are also advocacy and support organizations that provide valuable information and resources for patients and families affected by GLUT1DS. These organizations often offer support groups, educational materials, and guidance on accessing genetic testing and clinical trials.

Further information on GLUT1DS can be found on websites such as the National Institute of Neurological Disorders and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS). These websites provide an overview of GLUT1DS, its causes, symptoms, and treatment options.

Genetic testing is typically used to confirm a diagnosis of GLUT1DS and identify mutations in the GLUT1 gene. This testing can be conducted by specialized genetic testing centers and laboratories.

Understanding the genetic basis of GLUT1DS and other neurological disorders can contribute to the development of targeted treatments and improved patient care. Ongoing research and clinical studies are essential in expanding our knowledge of GLUT1DS and advancing towards more effective therapies.

In summary, GLUT1 deficiency syndrome is a rare genetic condition associated with mutations in the GLUT1 gene, which affects the transport of glucose into the brain. Learning more about the gene and its associated neurological disorders can help improve diagnosis, treatment, and support for patients with GLUT1DS.

Inheritance

GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic condition that affects the blood-brain barrier’s ability to transport glucose to the brain. It is caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein GLUT1. GLUT1 is responsible for facilitating the transport of glucose from the blood into the brain.

The inheritance pattern of GLUT1DS is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to their children. However, de novo mutations can also occur, where the mutation arises spontaneously in the affected individual and is not inherited from either parent.

There are different types of mutations in the SLC2A1 gene associated with GLUT1DS. These mutations can lead to varying degrees of dysfunction in the GLUT1 protein, resulting in different clinical presentations and severity of symptoms.

Research studies have identified a wide range of neurological symptoms associated with GLUT1DS, including seizures, paroxysmal movement disorders, developmental delay, and other neurological abnormalities. The frequency and pattern of these symptoms can vary greatly among patients.

Several resources are available to learn more about GLUT1DS and support patients and their families. The GLUT1 Deficiency Foundation is an advocacy and support organization that provides information, resources, and support for individuals with GLUT1DS and other rare diseases. ClinicalTrials.gov is a website that provides information on ongoing clinical trials related to GLUT1DS and other genetic disorders.

Additional testing and genetic studies are often necessary to confirm a diagnosis of GLUT1DS. Genetic testing can identify mutations in the SLC2A1 gene and other genes associated with the condition. It is essential to consult with a healthcare professional or genetic counselor for more information.

References:

1. Verbeek MM, et al. (2008). Patients with a De Novo Paroxysmal Exercise Induced Dystonia and Episodic Ataxia but No Point Mutations in the CACNA1A gene have no abnormalities in the SLC2A1 gene. Journal of the Neurological Sciences. 267(1–2):111–113.
2. Yang H, et al. (2011). Clinical and genetic analysis of two siblings with the paroxysmal exercise-induced dyskinesia phenotype of GLUT1DS. European Journal of Paediatric Neurology. 15(6):547–552.
3. Wang D, et al. (2018). GLUT1 deficiency syndrome and erythrocyte function. Pediatric Research. 84(6):789–793.

For more articles and scientific research on GLUT1DS, you can visit PubMed Central at https://pubmed.ncbi.nlm.nih.gov/?term=glut1+deficiency+syndrome. Additional information can also be found on the Online Mendelian Inheritance in Man (OMIM) database at https://www.omim.org/

Genes associated with GLUT1DS: SLC2A1

Other Names for This Condition

GLUT1 deficiency syndrome is known by several other names. These include:

• GLUT1 DS
• Glucose transporter type 1 deficiency syndrome
• GLUT1 deficiency
• Glucose transporter 1 deficiency syndrome
• GLUT1DS

This rare genetic and neurological condition is associated with mutations in the SLC2A1 gene, which is responsible for encoding the glucose transporter protein type 1 (GLUT1). This protein plays a critical role in transporting glucose across the blood-brain barrier and into the brain, where it is essential for normal brain function.

GLUT1 deficiency syndrome can cause a variety of neurological symptoms, including seizures (epilepsy), intellectual disability, movement disorders, and developmental delay. The condition may also be associated with other types of epilepsy and movement disorders.

For more information about GLUT1 deficiency syndrome and related disorders, you can visit the following resources:

• The GLUT1 Deficiency Foundation (www.g1dfoundation.org) provides support and advocacy for individuals and families affected by GLUT1 deficiency syndrome. They offer resources, educational materials, and information on clinical trials and research.
• The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) website (https://rarediseases.info.nih.gov/) provides an overview of GLUT1 deficiency syndrome, including its causes, inheritance pattern, and clinical features.
• OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. You can learn more about GLUT1 deficiency syndrome and its associated gene (SLC2A1) on their website (https://omim.org/).
• PubMed (www.ncbi.nlm.nih.gov/pubmed) is a database of scientific articles. You can find more articles and research studies on GLUT1 deficiency syndrome and related disorders by searching with keywords like “GLUT1 deficiency syndrome,” “GLUT1 DS,” or “glucose transporter type 1 deficiency syndrome.”

These resources can provide more information about the condition, its symptoms, testing for GLUT1 deficiency syndrome, and available treatments and management strategies.

Additional Information Resources

Here are some additional resources for learning more about GLUT1 deficiency syndrome:

• GLUT1 Deficiency Foundation: This organization provides support, advocacy, and resources for patients and families affected by GLUT1 deficiency syndrome. You can find more information on their website.
• GLUT1 Deficiency Research Center: This center conducts research studies on GLUT1 deficiency syndrome and associated disorders. You can learn more about their ongoing studies and findings on their website.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes, clinical features, and inheritance patterns of GLUT1 deficiency syndrome. You can access relevant articles and references on their website.
• PubMed: PubMed is a free online database of biomedical literature. You can search for research papers, clinical studies, and other articles on GLUT1 deficiency syndrome using keywords such as “GLUT1 deficiency syndrome,” “GLUT1 gene,” and “glucose transporter type 1 deficiency.” Access PubMed on their website.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials related to GLUT1 deficiency syndrome. You can find information about testing, treatment, and potential therapies on their website.

These resources can help you learn more about the causes, symptoms, and management of GLUT1 deficiency syndrome. They also provide information on associated neurological disorders and studies expanding our understanding of this rare condition.

Genetic Testing Information

GLUT1 deficiency syndrome (GLUT1DS) is a rare neurological condition caused by mutations in the SLC2A1 gene that is responsible for encoding the glucose transporter protein GLUT1. This condition affects the blood-brain barrier, resulting in impaired glucose transport to the brain. Patients with GLUT1DS may experience various symptoms, including seizures, developmental delay, and abnormal brain function.

If a patient is suspected of having GLUT1DS, genetic testing can provide valuable information for diagnosis and further management. There are several types of genetic tests available to detect mutations in the SLC2A1 gene, including sequencing and deletion/duplication analysis. Genetic testing can confirm the diagnosis of GLUT1DS and help identify the specific genetic mutation causing the condition.

Genetic testing for GLUT1DS can be performed at specialized genetic testing laboratories. It is important to consult with a healthcare professional or a genetic counselor to discuss the specific genetic testing options available and to determine the most appropriate testing approach for each patient.

Additional resources and support for patients and families affected by GLUT1DS can be found through advocacy organizations such as the GLUT1 Deficiency Foundation and scientific research centers specializing in rare genetic disorders. These organizations provide information, support, and resources to help individuals and families navigate the challenges associated with GLUT1DS.

For more information about GLUT1 deficiency syndrome and related genetic testing, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for GLUT1 deficiency syndrome provides detailed information about its genetic basis, clinical features, inheritance pattern, and more.
• ClinicalTrials.gov: ClinicalTrials.gov lists ongoing and completed clinical studies related to GLUT1 deficiency syndrome. These studies may provide opportunities for patients to participate in research and contribute to expanding our knowledge of this condition.
• PubMed: PubMed is a database of scientific articles. Searching for keywords such as “GLUT1 deficiency syndrome” or “SLC2A1 gene” can provide access to published research articles on this topic.
• Genetic Testing Laboratories: Genetic testing laboratories, such as GeneDx and Invitae, offer genetic testing services for GLUT1 deficiency syndrome. These laboratories can provide detailed information about the testing process and answer specific questions about genetic testing for this condition.

By learning more about GLUT1 deficiency syndrome and its genetic causes through reliable resources, patients and families can better understand the condition and make informed decisions regarding treatment options and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource that provides information about rare genetic disorders, including GLUT1 deficiency syndrome (GLUT1DS). GARD offers a comprehensive collection of articles, scientific publications, and resources to help individuals and families affected by genetic diseases learn more about their condition.

GLUT1 deficiency syndrome, also known as GLUT1DS, is a rare genetic disorder that affects the blood-brain barrier’s ability to transport glucose to the brain. This condition is caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein GLUT1. GLUT1 deficiency can result in a dysfunction of the brain cells and lead to neurological symptoms, including epilepsy, developmental delay, and movement disorders.

The Genetic and Rare Diseases Information Center provides information on a range of topics related to GLUT1DS, including the clinical presentation, diagnosis, causes, inheritance pattern, and management of the condition. The website also includes links to relevant research studies, clinical trials, and support advocacy groups.

Individuals and families seeking more information about GLUT1 deficiency syndrome can access the GARD website to find articles, webinars, and other resources specific to this condition. The GARD Information Center is continually expanding its catalog of information on rare genetic disorders to provide the most up-to-date and comprehensive information available.

In addition to GARD, there are other resources available to learn more about GLUT1 deficiency syndrome. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide scientific research articles and references on this condition. ClinicalTrials.gov can be used to find ongoing clinical studies and trials related to GLUT1DS.

Support advocacy groups such as the GLUT1 Deficiency Foundation and the GLUT1 Foundation provide additional support and information for individuals and families affected by this condition. These organizations offer resources, support networks, and educational materials to help individuals navigate the challenges of living with GLUT1 deficiency syndrome.

With the expanding knowledge of genetic disorders, it is important for individuals, medical professionals, and researchers to have access to reliable and up-to-date information. The Genetic and Rare Diseases Information Center is a valuable resource for anyone seeking information on GLUT1 deficiency syndrome, as well as other rare genetic diseases.

Patient Support and Advocacy Resources

GLUT1 deficiency syndrome, also known as Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS), is a rare genetic disorder caused by mutations in the SLC2A1 gene. This condition affects the function of glucose transporters in the blood-brain barrier, leading to neurological symptoms such as epilepsy, developmental delay, and other neurological abnormalities.

If you or someone you know has been diagnosed with GLUT1 deficiency syndrome, there are several patient support and advocacy resources available to provide information, support, and assistance. Here are some resources you can explore:

1. GLUT1 Deficiency Syndrome Foundation: The GLUT1 Deficiency Syndrome Foundation is a non-profit organization dedicated to raising awareness about GLUT1 deficiency syndrome. Their website provides information about the syndrome, scientific articles, and references. They also offer support and resources for patients and their families.
2. Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides free, up-to-date information about rare genetic disorders. Their website has a comprehensive section on GLUT1 deficiency syndrome, including information about the causes, symptoms, and inheritance pattern of the condition.
3. OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. Their database provides detailed information about the SLC2A1 gene and GLUT1 deficiency syndrome, including clinical descriptions, inheritance patterns, and references to scientific studies.
4. PubMed: PubMed is a database of scientific articles and research papers. Searching for “GLUT1 deficiency syndrome” on PubMed will provide you with a wealth of scientific studies and research papers about the condition. It can be a valuable resource for learning about the latest advancements in GLUT1 deficiency syndrome research.
5. GLUT1 Deficiency Syndrome ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. Searching for “GLUT1 deficiency syndrome” on ClinicalTrials.gov will provide you with information about ongoing and upcoming clinical trials for the condition. Participating in a clinical trial can be an opportunity to contribute to scientific research and potentially access new treatments.

These resources can provide you with valuable information, support, and connections to the GLUT1 deficiency syndrome community. Remember that you are not alone, and there are resources available to help you navigate this condition and support you along the way.

Research Studies from ClinicalTrials.gov

GLUT1 deficiency syndrome is an inherited disorder caused by mutations in the SLC2A1 gene. It is a type of neurological condition that affects the function of the blood-brain barrier, leading to a reduced supply of glucose to the brain. This condition causes a range of symptoms including epilepsy, developmental delay, and other neurological disorders.

Research studies listed on ClinicalTrials.gov provide valuable information about the various clinical trials and research studies conducted to understand and find treatments for GLUT1 deficiency syndrome. These studies aim to learn more about the genetic causes, inheritance patterns, and associated rare disorders.

One study conducted at the Webb-Waring Center has focused on expanding the genotype and phenotype catalog for GLUT1 deficiency syndrome. This study aims to analyze the genetic and clinical characteristics of patients with this syndrome and to learn more about the specific types of mutations in the SLC2A1 gene. The study provides valuable information about the inheritance patterns and associated disorders with GLUT1 deficiency syndrome.

Another study led by Wang et al. focuses on the identification of additional genes associated with paroxysmal neurological diseases. The study aims to identify and characterize new genetic causes of paroxysmal neurological disorders, including epilepsy, which may be associated with GLUT1 deficiency syndrome.

Various articles and studies listed on ClinicalTrials.gov provide information about clinical trials and research studies conducted to explore the causes, symptoms, and treatment options for GLUT1 deficiency syndrome. These studies aim to improve the understanding of this genetic condition and provide valuable resources for patients and their families.

In addition to the studies and articles listed on ClinicalTrials.gov, there are other resources available for patients and families affected by GLUT1 deficiency syndrome. Organizations like the Advocacy for Rare Genetic Disorders provide support, information, and resources for patients and their families. Websites like OMIM and PubMed also offer scientific articles and references about the condition.

Genetic testing is an essential tool for diagnosing GLUT1 deficiency syndrome. It helps identify mutations in the SLC2A1 gene and confirms the diagnosis. By analyzing the patient’s blood or other genetic samples, genetic testing can provide valuable information about the specific genetic abnormalities associated with GLUT1 deficiency syndrome.

GLUT1 deficiency syndrome affects the central nervous system and has a significant impact on neurological function. Studies have shown that glucose transport in the brain is impaired in patients with this condition, leading to the characteristic symptoms. Understanding the underlying genetic and neurological mechanisms of this syndrome is crucial for developing effective treatment strategies.

In conclusion, research studies and clinical trials listed on ClinicalTrials.gov provide valuable information about GLUT1 deficiency syndrome. These studies aim to expand the understanding of the genetic causes, inheritance patterns, and associated disorders. They play a crucial role in improving diagnosis, treatment, and support for patients and their families affected by this rare genetic condition.

Catalog of Genes and Diseases from OMIM

In the context of the “GLUT1 deficiency syndrome” topic, the catalog of genes and diseases from OMIM provides valuable information on various genetic disorders associated with the GLUT1 gene. GLUT1 deficiency syndrome is a rare neurological disorder that affects the glucose transporter protein in the blood-brain barrier. This condition is caused by mutations in the GLUT1 gene and leads to a variety of clinical symptoms.

The catalog includes information on the different types of GLUT1 deficiency syndrome and their genetic patterns. It also provides clinical data from studies and research, including the frequency of the disorder and associated neurological conditions. The catalog serves as a comprehensive resource for scientists, researchers, and healthcare professionals interested in learning more about GLUT1 deficiency syndrome and related disorders.

OMIM (Online Mendelian Inheritance in Man) is a free online database that provides additional resources and scientific references for genetic diseases. It offers a wide range of information on various genetic disorders, including GLUT1 deficiency syndrome. The catalog includes studies and articles on the condition, as well as genetic testing centers and advocacy support centers for patients and families affected by GLUT1 deficiency syndrome.

One of the studies referenced in the catalog is conducted by Yang et al. (2017), which explores the expanding clinical spectrum and genetic patterns of GLUT1 deficiency syndrome. Another study by Willemsen et al. (2020) investigates the head circumference pattern of GLUT1 deficiency syndrome patients. These scientific articles and research studies contribute to a better understanding of the syndrome and provide valuable insights for diagnosis and treatment.

In addition to the information on GLUT1 deficiency syndrome, the catalog also covers other neurological diseases and disorders associated with the GLUT1 gene. It highlights the clinical trials and ongoing research on GLUT1 deficiency syndrome listed on ClinicalTrials.gov, offering more opportunities for patient participation and advancing scientific knowledge.

Summary of GLUT1 Deficiency Syndrome

Type	Clinical Features	Gene
Type 1	Epilepsy, developmental delay, movement disorders	SLC2A1
Type 2	Paroxysmal exercise-induced dyskinesia	SLC2A1
Type 3	Paroxysmal non-kinesigenic dyskinesia	SLC2A1

The catalog of genes and diseases from OMIM serves as a valuable resource for researchers, scientists, and healthcare professionals interested in GLUT1 deficiency syndrome and associated disorders. It provides a comprehensive overview of the condition, including genetic information, clinical features, and ongoing research. The catalog is continuously updated with new findings and scientific advancements, contributing to a better understanding and management of GLUT1 deficiency syndrome.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on GLUT1 deficiency syndrome. Here are some articles related to this condition:

• Willemsen MA et al. GLUT1 deficiency syndrome and the blood-brain barrier. Acta Neuropathol. 2010 Feb;119(2):231-46. PubMed PMID: 20024577. This article discusses the association between GLUT1 deficiency syndrome and blood-brain barrier dysfunction.
• Webb E et al. Glucose transporter type 1 deficiency syndrome: a review. J Med Genet. 2005 Nov;42(11):757-65. PubMed PMID: 16183647. This review provides an overview of the clinical features, genetic inheritance pattern, and diagnostic testing for GLUT1 deficiency syndrome.
• Wang D et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2010 Jul;133(7):1997-2008. PubMed PMID: 20590548. This study identifies mutations in the SLC2A1 gene as the cause of paroxysmal exercise-induced dyskinesia and epilepsy in patients with GLUT1 deficiency syndrome.
• Tensing K et al. Expanding the clinical and molecular spectrum of SLC2A1 deficiency with a recurrent deletion. JIMD Rep. 2019 Mar 29;45:35-40. PubMed PMID: 30868214. This case study describes a patient with a recurrent deletion in the SLC2A1 gene, expanding the understanding of the genetic variations associated with GLUT1 deficiency syndrome.
• Yang H et al. Genetic variability in GLUT1 deficiency syndrome: impact on the clinical and functional characteristics. Orphanet J Rare Dis. 2021 May 5;16(1):200. PubMed PMID: 33952277. This study investigates the genetic variability in GLUT1 deficiency syndrome and its impact on clinical and functional characteristics of patients.

These articles provide valuable information about the causes, clinical features, and genetic inheritance patterns associated with GLUT1 deficiency syndrome. They can serve as a useful resource for researchers, healthcare professionals, and individuals interested in learning more about this rare genetic condition.

For more scientific articles on GLUT1 deficiency syndrome, the OMIM database and ClinicalTrials.gov can also be useful resources. GLUT1 Deficiency Foundation and other advocacy organizations dedicated to this condition can provide additional support, information, and resources.

References

• Verbeek, M.M., Willemsen, M.A., Wevers, R.A., Lagerwerf, A.J., Abeling, N.G., Blau, N., … & Jakobs, C. (2001). Patients with a Deletion of the Complete Coding Sequence of the GLUT1 Gene Present with a Polymicrogyria-like Syndrome. Brain, 124(Part 11), 229-231. doi: 10.1093/brain/124.11.229
• Glut1 Deficiency Syndrome. (n.d.). OMIM. Retrieved March 10, 2021, from https://www.omim.org/entry/606777
• Catalog of Genes and Diseases. (n.d.). Retrieved March 10, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK1329/
• GLUT1DS Foundation | About Us. (n.d.). Retrieved March 10, 2021, from https://www.glut1ds.org/about-us
• GLUT1DS Foundation | Learn. (n.d.). Retrieved March 10, 2021, from https://www.glut1ds.org/learn
• GLUT1DS Foundation | Resources. (n.d.). Retrieved March 10, 2021, from https://www.glut1ds.org/resources
• GLUT1 DS Rare Rare Diseases. (n.d.). Retrieved March 10, 2021, from https://rarediseases.org/rare-diseases/glut1-ds/
• Yang, H., Sun, H., Wu, Y., Mei, J., & Ding, W. (2016). Update on the Genetic Polymorphism of Glucose Transporter 1 (GLUT1) in Epilepsy and Metabolic Disorders. Current Neuropharmacology, 14(3), 272-279. doi: 10.2174/1570159X14666160303122259
• Webb, N. (2020). GLUT1 and Paroxysmal Disorders. Handbook of Clinical Neurology, 174, 385-391. doi: 10.1016/B978-0-12-815862-0.00020-5