KEGG   DISEASE: H00749Help
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 hierarchy
Pathway
MAPK signaling pathway
Calcium signaling pathway
Cardiac muscle contraction
Synaptic vesicle cycle
Glutamatergic synapse
Cholinergic synapse
GABAergic synapse
Dopaminergic synapse
Long-term depression
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]
Drug
Carbamazepine [DR:D00252]
Phenytoin [DR:D00512]
Sulthiame [DR:D01787]
Acetazolamide [DR:D00218 D01196]
4-Aminopyridine [DR:D04127]
Other DBs
Reference
PMID:19650351 (description, gene)
  Authors
Finsterer J
  Title
Ataxias with autosomal, X-chromosomal or maternal inheritance.
  Journal
Can J Neurol Sci 36:409-28 (2009)
Reference
PMID:19734086 (description, gene, drug)
  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)

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