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disease: Familial hemiplegic migraine type 2

id5543
nameFamilial hemiplegic migraine type 2
descriptionFamilial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including familial hemiplegic migraine) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech); FHM must include motor involvement, i.e., hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with FHM1 have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. Cerebral infarction and death have rarely been associated with hemiplegic migraine.
variant-disease NM_000702.3(ATP1A2):c.1244C>T (p.Thr415Met) AND Familial hemiplegic migraine type 2
NM_000702.3(ATP1A2):c.2192T>C (p.Met731Thr) AND Familial hemiplegic migraine type 2
NM_000702.3(ATP1A2):c.2066G>A (p.Arg689Gln) AND Familial hemiplegic migraine type 2
NM_000702.3(ATP1A2):c.857T>C (p.Ile286Thr) AND Familial hemiplegic migraine type 2
NM_000702.3(ATP1A2):c.571G>A (p.Val191Met) AND Familial hemiplegic migraine type 2
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