Details of Disease

General Information of Disease (ID: DISB8Z7H)

Disease Name Episodic ataxia type 1
Synonyms
continuous muscle fiber activity, hereditary; paroxysmal ataxia with neuromyotonia, hereditary; myokymia with periodic ataxia; continuous muscle fibre activity, hereditary; ataxia, episodic, with myokymia; myokymia 1; episodic ataxia, type 1; EA1; myokymia 1 with or without hypomagnesemia; Isaacs-Mertens syndrome; episodic ataxia with myokymia; acetazolamide-responsive periodic ataxia; episodic ataxia/myokymia syndrome; KCNA1 hereditary episodic ataxia; hereditary episodic ataxia caused by mutation in KCNA1; continuous muscle fibre activity; hereditary paroxysmal ataxia with neuromyotonia; continuous muscle fiber activity; familial paroxysmal kinesigenic ataxia and continuous myokymia
Definition Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Disease Hierarchy
DISSYRHC: Hereditary peripheral neuropathy
DISC4ZQW: Hereditary episodic ataxia
DISB8Z7H: Episodic ataxia type 1
Disease Identifiers
MONDO ID
MONDO_0008047
MESH ID
C563278
UMLS CUI
C1719788
OMIM ID
160120
MedGen ID
318554
Orphanet ID
37612
SNOMED CT ID
421182009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1A TTX4QDJ Strong Genetic Variation [1]
GABRG2 TT06RH5 Strong Genetic Variation [2]
KCNQ2 TTPXI3S Strong Biomarker [2]
KCNQ3 TTIVDM3 Strong Genetic Variation [2]
KCNA1 TTS3DIK Definitive Autosomal dominant [3]
KCNA5 TTW0CMT Definitive Genetic Variation [4]
KCNA6 TTJ2W69 Definitive Genetic Variation [4]
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⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNA1 OTP3CCEH Definitive Autosomal dominant [3]
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References

1 Genetics of dizziness: cerebellar and vestibular disorders.Curr Opin Neurol. 2014 Feb;27(1):98-104. doi: 10.1097/WCO.0000000000000053.
2 Ion channels and epilepsy.Am J Med Genet. 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4 Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.