Literature DB >> 22082423

Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.

Oriel Carreño1, María Teresa García-Silva, Óscar García-Campos, Ana Martínez-de Aragón, Bru Cormand, Alfons Macaya.   

Abstract

We report the case of a 9-year-old girl with early-onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion-weighted magnetic resonance imaging disclosed unilateral striatal abnormal signal consistent with cytotoxic edema, which evolved into atrophy on follow-up scans. Mutational screen of CACNA1A gene identified a de novo p.Tyr1387Cys mutation.
© 2011 American Headache Society.

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Year:  2011        PMID： 22082423     DOI： 10.1111/j.1526-4610.2011.02014.x

Source DB:  PubMed          Journal:  Headache        ISSN： 0017-8748            Impact factor:   5.887


  7 in total

1.  Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice.

Authors:  Katharina Eikermann-Haerter; Michal Arbel-Ornath; Nilufer Yalcin; Esther S Yu; Kishore V Kuchibhotla; Izumi Yuzawa; Eloise Hudry; Carli R Willard; Mihail Climov; Fatmagul Keles; Arianna M Belcher; Buse Sengul; Andrea Negro; Isaac A Rosen; Andrea Arreguin; Michel D Ferrari; Arn M J M van den Maagdenberg; Brian J Bacskai; Cenk Ayata
Journal:  Ann Neurol       Date:  2015-07-06       Impact factor: 10.422

Review 2.  The electrophysiological footprint of CACNA1A disorders.

Authors:  Elisabetta Indelicato; Iris Unterberger; Wolfgang Nachbauer; Andreas Eigentler; Matthias Amprosi; Fiona Zeiner; Edda Haberlandt; Manuela Kaml; Elke Gizewski; Sylvia Boesch
Journal:  J Neurol       Date:  2021-02-05       Impact factor: 4.849

3.  Pathophysiological role of omega pore current in channelopathies.

Authors:  Karin Jurkat-Rott; James Groome; Frank Lehmann-Horn
Journal:  Front Pharmacol       Date:  2012-06-11       Impact factor: 5.810

4.  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

5.  Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Authors:  Cèlia Sintas; Oriel Carreño; Noèlia Fernàndez-Castillo; Roser Corominas; Marta Vila-Pueyo; Claudio Toma; Ester Cuenca-León; Isabel Barroeta; Carles Roig; Víctor Volpini; Alfons Macaya; Bru Cormand
Journal:  Sci Rep       Date:  2017-05-31       Impact factor: 4.379

6.  Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report.

Authors:  Huiyan Luan; Lei Zhang; Sijin Zhang; Meng Zhang
Journal:  Medicine (Baltimore)       Date:  2021-12-23       Impact factor: 1.817

Review 7.  Impact of ESR1 Gene Polymorphisms on Migraine Susceptibility: A Meta-Analysis.

Authors:  Li Li; Ruozhuo Liu; Zhao Dong; Xiaolin Wang; Shengyuan Yu
Journal:  Medicine (Baltimore)       Date:  2015-09       Impact factor: 1.817
  7 in total

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