Literature DB >> 18279427

Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.

T Freilinger1, M Bohe, B Wegener, B Müller-Myhsok, M Dichgans, H Knoblauch.   

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Year:  2008        PMID： 18279427     DOI： 10.1111/j.1468-2982.2008.01540.x

Source DB:  PubMed          Journal:  Cephalalgia        ISSN： 0333-1024            Impact factor:   6.292


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  4 in total

1.  CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

Authors:  Lena Damaj; Alexis Lupien-Meilleur; Anne Lortie; Émilie Riou; Luis H Ospina; Louise Gagnon; Catherine Vanasse; Elsa Rossignol
Journal:  Eur J Hum Genet       Date:  2015-03-04       Impact factor: 4.246

Review 2.  Familial hemiplegic migraine and spreading depression.

Authors:  Hadi Kazemi; Erwin-Josef Speckmann; Ali Gorji
Journal:  Iran J Child Neurol       Date:  2014

3.  Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Authors:  Oriel Carreño; Roser Corominas; Selma Angèlica Serra; Cèlia Sintas; Noèlia Fernández-Castillo; Marta Vila-Pueyo; Claudio Toma; Gemma G Gené; Roser Pons; Miguel Llaneza; María-Jesús Sobrido; Daniel Grinberg; Miguel Ángel Valverde; José Manuel Fernández-Fernández; Alfons Macaya; Bru Cormand
Journal:  Mol Genet Genomic Med       Date:  2013-07-02       Impact factor: 2.183

4.  Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.

Authors:  Chunxiang Fan; Stefan Wolking; Frank Lehmann-Horn; Ulrike Bs Hedrich; Tobias Freilinger; Holger Lerche; Guntram Borck; Christian Kubisch; Karin Jurkat-Rott
Journal:  Cephalalgia       Date:  2016-07-11       Impact factor: 6.292
  4 in total

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