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Results 1 - 10 of 79 for Ataxia -telangiectasia variant
  1. SLC1A3 gene 
    ... disorder involving episodes of poor coordination and balance (ataxia).The variants that cause episodic ataxia change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/slc1a3 - Genetics
  2. KCNA1 gene 
    ... epilepsy). Like the KCNA1 variants that cause episodic ataxia (described above), the variants that cause isolated myokymia and epilepsy reduce the ... the brain. Researchers are working to determine why variants in this single gene can cause ... member 1 (episodic ataxia with myokymia) RBK1 voltage-gated potassium channel subunit ...
    https://medlineplus.gov/genetics/gene/kcna1 - Genetics
  3. CACNA1A gene 
    ... variants is commonly associated with migraines with auras, ataxia, and nystagmus.CACNA1A gene variants that cause sporadic hemiplegic migraine are acquired during ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  4. POLG gene 
    ... to replicate mtDNA. The most common POLG gene variant in ataxia neuropathy spectrum is the same as that in ... weakness (myopathy), and problems with coordination and balance (ataxia).Most of the POLG gene variants involved in MEMSA change single amino acids in ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  5. Episodic ataxia 
    ... the most common form of the condition. Episodic ataxia can be caused by variants (also called mutations) in several genes that play ... in the KCNA1 and CACNA1A genes cause episodic ataxia types 1 and 2, respectively.Variants in the SLC1A3 gene cause episodic ataxia type ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
  6. TPP1 gene 
    ... Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late- ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  7. PRNP gene 
    ... intellectual function (dementia); and poor coordination and balance (ataxia). The signs and symptoms worsen over time, ultimately leading to death. Some of the PRNP gene variants that cause familial prion disease change single amino ...
    https://medlineplus.gov/genetics/gene/prnp - Genetics
  8. TBP gene 
    ... thinking ability. HDL4 is sometimes known as spinocerebellar ataxia 17 (SCA17). This diagnosis is typically used when the main signs and symptoms involve difficulties with coordination and movement.The variants associated with HDL4 and SCA17 increase the size ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  9. ATP1A3 gene 
    ... onset dystonia parkinsonism. More About This Health Condition Variants in the ATP1A3 gene can cause a group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  10. Charcot-Marie-Tooth Disease (Muscular Dystrophy Association) - PDF  
    Charcot-Marie-Tooth Disease/Start Here ... Charcot-Marie-Tooth Disease ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/.../files/2021/07/CMT_factSheet_Jun2021.pdf - External Health Links
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