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Browse result for Episodic ataxia

※ introduction

    Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement). There are seven types recognized but the majority are due to two recognized entities. Ataxia can be provoked by psychological stress or startle, or heavy exertion, including exercise. Symptoms can first appear in infancy. There are at least six loci for EA, of which 4 are known genes. Some patients with EA also have migraine or progressive cerebellar degenerative disorders, symptomatic of either familial hemiplegic migraine or spinocerebellar ataxia. Some patients respond to acetazolamide though others do not.

Reference
Wiki: Episodic ataxia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02283O00305785
CACNB4
Voltage-dependent L-type calcium channel subunit beta-4
Homo sapiens
PTMD02332O00555773
CACNA1A
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Homo sapiens
PTMD05113P430036507
SLC1A3
Excitatory amino acid transporter 1
Homo sapiens
PTMD06324Q094703736
KCNA1
Potassium voltage-gated channel subfamily A member 1 channel HuKI)
Homo sapiens