KEGG   DISEASE: Episodic ataxias
Entry
H00749                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H00749  Episodic ataxias
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H00749  Episodic ataxias
 Cellular process
  nt06544  Neuroactive ligand signaling
   H00749  Episodic ataxias
Pathway
hsa04020  Calcium signaling pathway
hsa04724  Glutamatergic synapse
hsa04727  GABAergic synapse
hsa04082  Neuroactive ligand signaling
Network
nt06528 Calcium signaling
nt06544 Neuroactive ligand signaling
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]
Other DBs
ICD-11: 8A03.14
MeSH: C563278 C535506 C567207
OMIM: 160120 108500 613855 612656 618924
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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

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