Case Report

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation

Table 1

Mutations described in ATP1A2 gene related to FHM.

MutationPhenotypic 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