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. 2016 Oct 13;2016:3464285. doi: 10.1155/2016/3464285

Table 1.

Mutations described in ATP1A2 gene related to FHM.

Mutation Phenotypic characteristics
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