A novel CACNA1A variant in a child with early stroke and intractable epilepsy.

Molecular Genetics & Genomic Medicine
Franciska J GudenkaufSeema R Lalani

Abstract

CACNA1A variants have been described in several disorders that encompass a wide range of neurologic phenotypes, including hemiplegic migraine, ataxia, cognitive delay, and epilepsy. To date, ischemic stroke caused by a CACNA1A variant has only been reported once in the literature. We describe a 4-year-old female with recurrent ischemic strokes beginning at 6 weeks of age, intractable epilepsy, and significant global developmental delay. Exome sequencing (ES) was completed for her evaluation. We found a novel de novo, likely pathogenic variant, p.Leu1692Gln in CACNA1A by ES. The substitution affects a leucine residue that is highly conserved in species from fish to primates. We present the second case of recurrent ischemic strokes in a patient with CACNA1A mutation. Our findings expand the phenotypic heterogeneity related to Cav 2.1 (P/Q-type) calcium channel dysfunction and suggest consideration of CACNA1A disorder in evaluation of pediatric strokes.

References

Jun 5, 2002·Genome Research·W James KentDavid Haussler
Dec 15, 2010·Channels·Kevin P M Currie
Dec 25, 2010·Stroke; a Journal of Cerebral Circulation·Ellen KnierimMarkus Schuelke
Dec 7, 2011·Circulation·Katharina Eikermann-HaerterCenk Ayata
Dec 17, 2011·Lancet Neurology·Tobias KurthMarie-Germaine Bousser
May 23, 2012·Lancet Neurology·Oscar M P Jolobe
Mar 11, 2015·Headache·Barbara L Nye, Vijay M Thadani
Mar 25, 2017·Blood Cells, Molecules & Diseases·Ryan J FellingTimothy Bernard
Nov 23, 2017·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
Sep 7, 2018·Molecular Brain·Jing LiuBaomin Li
Nov 6, 2018·Nucleic Acids Research·UNKNOWN UniProt Consortium
May 29, 2020·Nature·Konrad J KarczewskiDaniel G MacArthur

❮ Previous
Next ❯

Citations

Jul 4, 2021·Neurologic Clinics·Luis A MartinezAnne E Anderson
Jul 16, 2021·Developmental Medicine and Child Neurology·Xueyang NiuYuehua Zhang
Nov 4, 2021·Orphanet Journal of Rare Diseases·Elham AlehabibAbolfazl Movafagh

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
exome sequencing
transgenic

Software Mentioned

ClinVar
gnomAD

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Related Papers

Movement Disorders : Official Journal of the Movement Disorder Society
Shinsuke FujiokaZbigniew K Wszolek
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences
Rokhsareh MeamarMansoor Salehi
© 2021 Meta ULC. All rights reserved