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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
Reference
Wiki: Episodic ataxia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02283 | O00305 | 785 | CACNB4 | Voltage-dependent L-type calcium channel subunit beta-4 | Homo sapiens |
| PTMD02332 | O00555 | 773 | CACNA1A | Voltage-dependent P/Q-type calcium channel subunit alpha-1A | Homo sapiens |
| PTMD05113 | P43003 | 6507 | SLC1A3 | Excitatory amino acid transporter 1 | Homo sapiens |
| PTMD06324 | Q09470 | 3736 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 channel HuKI) | Homo sapiens |
