Gene: [12p13/KCNA1] potassium voltage-gated channel, shaker-related subfamily, member 1; ataxia, episodic with myokymia (AEM; MIM:160120); paroxysmal ataxia with neuromyotonia, hereditary (MIM:160120); [AEMK EA1 EAM ]
HET | Kramer-1994 suggested that there are 2 autosomal dominant forms of episodic ataxia. In EA1, attacks last minutes and interictal myokymia may be present. The second form, EA-2, is often associated with nystagmus or trunkal instability and shows beneficial response to acetazolamide. The nystagmus-associated form was mapped to Chr 19p13.1 (GEM:19p131/CACNA1A)." |
REF | MUT,PAT
"Browne DL &: Nature Genet, 8, N2, 136-140, 1994a POL "Browne DL &: Hum Mol Genet, 3, N5, 842, 1994b LOC,FAG "Curran ME &: Genomics, 12, 729-737, 1992 LOC,FAG "Grissmer S &: PNAS, 87, 9411-9415, 1990 PAT,LOC "Litt M &: AJHG, 55, 702-709, 1994 SQN,GEN,LOC,EVO,EAG,MOU,HUM "Wymore RS &: Genomics, 20, 191-202, 1994 |
SWI | SWISSPROT: Q09470 |
KEY | neu, myo, mem, ion, sign |
CLA | coding, basic |
LOC | 12 p13 |
MIM | MIM: 176260 |
SYN | AEMK EA1 EAM |
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