Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3-Reference-Cited by-同舟云学术

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

Published:2019-05 Issue:3 Volume:23 Page:448-455
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Sabouraud Pascal,Riquet Audrey,Spitz Marie-Aude,Deiva Kumaran^ORCID,Nevsimalova Sona,Mignot Cyril,Lesca Gaëtan,Bednarek Nathalie,Doummar Diane,Pietrement Christine,Laugel Vincent

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference34 articles.

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3. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study;Rosewich;Lancet Neurol,2012

4. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome;Demos;Orphanet J Rare Dis,2014

5. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly;Paciorkowski;Epilepsia,2015

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