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GENATLAS PHENOTYPE
last update : 07-12-2021
Symbol MHP1
Location 19p13.2
HGNC id 1388
Name migraine, familial hemiplegic, 1
Corresponding gene CACNA1A
Other symbol(s) FHM1
Main clinical features
  • with/without aura
  • associated with a permanent cerebellar ataxia, wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy
  • unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name calcium voltage gated channel (CACNA1A)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function inhibiting neuronal P/Q-type Ca2+ channel activity and synaptic transmission
    Remark(s) mutation in the intracellular domain between s4 and s5 of repeat 3 can cause atypical nystagmus/cerebellar phenotypes, including isolated nystagmus