Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant-Reference-Cited by-同舟云学术

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Published:2019-06 Issue:6 Volume:62 Page:103530
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Angelini Chloé^ORCID,Van Gils Julien,Bigourdan Antoine,Jouk Pierre-Simon,Lacombe Didier,Menegon Patrice,Moutton Sébastien^ORCID,Riant Florence^ORCID,Sole Guilhem^ORCID,Tournier-Lasserve Elisabeth,Trimouille Aurélien^ORCID,Vincent Marie,Goizet Cyril

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference12 articles.

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2. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family;Barros;JAMA Neurol.,2013

3. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms;Damaj;Eur. J. Hum. Genet.: EJHG (Eur. J. Hum. Genet.),2015

4. Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia;Ducros;Am. J. Hum. Genet.,1999

5. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies;Epi4K Consortium;Am. J. Hum. Genet.,2016

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4. Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A;Human Genome Variation;2024-01-15

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