A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

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A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

Published:2019-10 Issue: Volume:71 Page:161-165
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Fernández-Marmiesse Ana,Sánchez-Iglesias Sofía,Darling Alejandra,O'Callaghan María M.,Tonda Raúl,Jou Cristina,Araújo-Vilar David

Funder

Consellería de Industria, Xunta de Galicia

Fundación Mutua Madrileña

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology,General Medicine

Reference30 articles.

1. Epi4K-Consortium and Epilepsy Phenome/Genome Project, De novo mutations in epileptic encephalopathies;Nature,2013

2. The genetic landscape of the epileptic encephalopathies of infancy and childhood;McTague;Lancet Neurol,2016

3. Epilepsy Phenome/Genome Project, and Epi4K-Consortium, De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies;EuroEpinomics-RES-Consortium;Am J Hum Genet,2014

4. Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion;Allen;Epilepsia,2016

5. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13;Magre;Nat Genet,2001

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1. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature;The American Journal of Human Genetics;2024-07

2. Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate Genes;2024-06-11

3. A murine model of BSCL2-associated Celia's encephalopathy;Neurobiology of Disease;2023-10

4. A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report;Neurological Sciences;2023-01-06

5. Role of Seipin in Human Diseases and Experimental Animal Models;Biomolecules;2022-06-17

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