Drug-resistant focal epilepsy in a girl with SETD5-related intellectual disability-Reference-Cited by-同舟云学术

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Drug-resistant focal epilepsy in a girl with SETD5-related intellectual disability

Published:2023-11 Issue: Volume:112 Page:109-111
ISSN:1059-1311
Container-title:Seizure: European Journal of Epilepsy
language:en
Short-container-title:Seizure: European Journal of Epilepsy

Author:

Manokaran Ranjith Kumar,Ochi Ayako^ORCID,Kerr Elizabeth^ORCID,Costain Gregory,Moran Olivia,Otsubo Hiroshi,Whitney Robyn^ORCID,Jain Puneet^ORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference4 articles.

1. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability;Grozeva;Am J Hum Genet,2014

2. Genetic variations on SETD5 underlying autistic conditions;Fernandes;Dev Neurobiol,2018

3. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts;Kingdom;Front Genet,2022

4. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders;Kobayashi;Brain Dev,2016

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. Molecular Genetics of Acquired Temporal Lobe Epilepsy;Biomolecules;2024-06-07

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