TY - JOUR
TI - Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation
AU - Swoboda, K.J.
AU - Kanavakis, E.
AU - Xaidara, A.
AU - Johnson, J.E.
AU - Leppert, M.F.
AU - Schlesinger-Massart, M.B.
AU - Ptacek, L.J.
AU - Silver, K.
AU - Youroukos, S.
JO - Annals of Neurology
PY - 2004
VL - 55
TODO - 6
SP - 884-887
PB - 
SN - 0364-5134, 1531-8249
TODO - 10.1002/ana.20134
TODO - alternating hemiplegia of childhood;  article;  ATP1A2 gene;  child;  childhood disease;  familial disease;  familial hemiplegic migraine;  female;  gene;  gene locus;  gene mutation;  genetic linkage;  hemiplegia;  human;  major clinical study;  male;  migraine;  mutational analysis;  nucleotide sequence;  pathogenesis;  phenotype;  priority journal, Age of Onset;  Child, Preschool;  DNA Mutational Analysis;  Family Health;  Female;  Hemiplegia;  Humans;  Infant;  Male;  Migraine with Aura;  Mutation;  Na(+)-K(+)-Exchanging ATPase;  Pedigree;  Phenotype;  Sequence Alignment;  Threonine
TODO - Alternating hemiplegia of childhood (AHC) is typically distinguished from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Expansion of the clinical spectrum in FHM recently has begun to blur the distinction between these disorders. We report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the A TP1A2 locus could not be excluded failed to identify additional mutations.
ER -