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Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation
Author(s) -
Swoboda Kathryn J.,
Kanavakis Emmanuel,
Xaidara Athina,
Johnson Justine E.,
Leppert Mark F.,
SchlesingerMassart Mylynda B.,
Ptacek Louis J.,
Silver Kenneth,
Youroukos Sotiris
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20134
Subject(s) - familial hemiplegic migraine , mutation , medicine , pediatrics , migraine , migraine with aura , psychology , genetics , psychiatry , aura , biology , gene
Abstract 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 ATP1A2 locus could not be excluded failed to identify additional mutations. Ann Neurol 2004;55:884–887