Hemidystonia with polymicrogyria is part of ATP1A3-related disorders-Reference-Cited by-同舟云学术

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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders

Published:2022-09 Issue:8 Volume:44 Page:567-570
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Lacombe Didier,Van-Gils Julien,Lebrun Marine,Trimouille Aurélien,Michaud Vincent,Cabet Sara,Chateil Jean-François,Pedespan Jean-Michel,Bar Claire,Lesca Gaetan

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Neurological disease mutations of α3 Na+, K+-ATPase: Structural and functional perspectives and rescue of compromised function;Holm;Biochim Biophys Acta,2016

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

3. Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3;Sabouraud;Eur J Paediatr Neurol,2019

4. fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation;Yano;Pediatr Neurol,2017

5. Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases;Boonsimma;Gene,2020

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Developmental and epileptic encephalopathy produced by the ATP1A2 mutation;S.S. Korsakov Journal of Neurology and Psychiatry;2024

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