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EPISODIC ATAXIA, TYPE 2; EA2

EPISODIC ATAXIA, TYPE 2; EA2
ATAXIA, EPISODIC, WITH NYSTAGMUS
108500
OMIM = Online Mendelian Inheritance of Men
97
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
19p13.13
G11.8
rare
auitosomal dominant
mutation in the calcium ion channel gene CACNA1A
Laboratory findings
Symptoms    ataxia
    cerebral atrophy
    dysarthria
    dystonia
    epilepsy
    headache (severe, recurrent or occipital, migraine)
    hemiparesis/hemiplegia/hemiparetic cerebral palsy
    MRI, brain, abnormalities [-]
    nystagmus
    onset, adolescent
    onset, childhood
    paresis
    paresthesia
    vertigo, dizziness