CareLit · DOI-Nachweis · Aktuelle Neurologie
Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a German family with FHM1, cerebellar atrophy and mental retardation
DOI 10.1055/s-2007-987788
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Nachweis in CareLit
Autor:innenT Freilinger, M Bohe, B Wegener, M Dichgans, H Knoblauch
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: Familial hemiplegic migraine (FHM) is a rare monogenic variant of migraine with aura characterized by some degree of hemiparesis during the aura. Mutations in three different genes have been identified in affected pedigrees: CACNA1A (FHM1), ATP1A2 (FHM2), and SCN1A (FHM3). More than 50% of pedigrees and all families with FHM plus cerebellar signs are linked to the FHM1 locus. Mental retardation (MR) has…
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Zitierempfehlung
T Freilinger, M Bohe, B Wegener, M Dichgans, H Knoblauch (2007) Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a German family with FHM1, cerebellar atrophy and mental retardation. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987788
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