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Mutation | Phenotypic characteristics |
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D718N [1] | Long-lasting hemiplegic migraine, seizures, and mental retardation |
P979L [1] | Recurrent coma, seizures, mental retardation, and interictal mild cerebellar signs |
R689Q [2] | Benign familial infantile convulsions |
K7940 [2] | Spectrum between alternating hemiplegia of childhood (AHC) and FHM |
A1033G, T345A [3] | Coma |
E700K [2] | FHM |
R593W and V628M [4] | FHM |
M731T and T376M [5] | Pure FHM |
A606T, N717K, R1002Q [6] | Severe hemiplegia |
T415M [7] | Dysphasia and drowsiness and attacks triggered by mild head injury |
V362E [8] | Mood alterations, classified as a borderline personality |
P796S [8] | Mild mental impairment, in addition to hemiplegic migraine |
D999H [8, 9] | Seizures |
G900R [8] | Coma, high fever, and status epilepticus |
G301R [10, 11] | FHM with interictal cerebellar symptoms |
R548C [12] | Epilepsy |
G855R [13] | Febrile seizures |
G902L [14] | Fever, coma, and cortical edema in MR |
V338A, Q927P [11] | Coma |
G715R [15] | Aphasia, coma, and brain edema |
R548H [16] | Hemiplegic migraine associated with basilar migraine |
M731T [17] | Psychotic aura symptoms |
p.T364M [18] | Prolonged hemiplegia, aphasia, somnolence, and fever in a child |
R1007W [19] | Drowsiness with myoclonic seizures |
S220L, R908Q [20] | Coma and aphasia |
M731T [21] | Psychotic aura |
R908Q [22] | FHM with prolonged aura |
p.A348p [23] | Large family and severe and long-lasting attacks with coma and fever |
c.G571A [24] | Neurosensorial hearing loss |
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