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 |