H00749 | |
H number | H00749 |
Name | Episodic ataxias |
Description | Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the autosomal-dominant EAs and are caused by dysfunction of neuronal voltage-gated ion channels. There are central and peripheral nervous system manifestations in both conditions. The current classification is based on genetics and actually includes seven distinct subtypes. But these variants other than EA1 and EA2 are rare, some only occurring in single families, and gene mutations have not been identified in all. It is quite likely, however, that the number of phenotypes and mutated genes will grow further. |
Category | Nervous system disease |
Network | - |
Gene | (EA1) KCNA1 [HSA:3736] [KO:K04874] (EA2) CACNA1A [HSA:773] [KO:K04344] (EA5) CACNB4 [HSA:785] [KO:K04865] (EA6) SLC1A3 [HSA:6507] [KO:K05614] (EA9) SCN2A [HSA:6326] [KO:K04834] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8A03.14 ICD-10: G11.8 OMIM: 160120 108500 613855 612656 618924 |
Reference | PMID:19650351 AUTHORS Finsterer J TITLE Ataxias with autosomal, X-chromosomal or maternal inheritance. JOURNAL Can J Neurol Sci 36:409-28 (2009) DOI:10.1017/S0317167100007733 PMID:19734086 AUTHORS Tomlinson SE, Hanna MG, Kullmann DM, Tan SV, Burke D TITLE Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo. JOURNAL Clin Neurophysiol 120:1768-76 (2009) DOI:10.1016/j.clinph.2009.07.003 PMID:9600245 (KCNA1) AUTHORS Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH TITLE Three novel KCNA1 mutations in episodic ataxia type I families. JOURNAL Hum Genet 102:464-6 (1998) DOI:10.1007/s004390050722 PMID:14681882 (CACNA1A) AUTHORS Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM TITLE Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. JOURNAL Ann Neurol 54:725-31 (2003) DOI:10.1002/ana.10756 PMID:10762541 (CACNB4) AUTHORS Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH TITLE Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. JOURNAL Am J Hum Genet 66:1531-9 (2000) DOI:10.1086/302909 PMID:19139306 (SLC1A3) AUTHORS de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM TITLE Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. JOURNAL Arch Neurol 66:97-101 (2009) DOI:10.1001/archneurol.2008.535 PMID:30165711 (SCN2A) AUTHORS Fazeli W, Becker K, Herkenrath P, Duchting C, Korber F, Landgraf P, Nurnberg P, Altmuller J, Thiele H, Koy A, Liebau MC, Simon T, Dotsch J, Cirak S TITLE Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. JOURNAL Neuropediatrics 49:379-384 (2018) DOI:10.1055/s-0038-1668141 |