De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
about
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsFunction Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishLow-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndromeRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceAdvancing epilepsy genetics in the genomic eraChromodomain helicase DNA-binding proteins in stem cells and human developmental diseasesGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsCHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.The Human Phenotype Ontology in 2017Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesGenetic basis of pediatric epilepsy syndromes.A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionAutism spectrum disorder and epileptic encephalopathy: common causes, many questions.Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domainsArchitects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromesSex, epilepsy, and epigenetics.De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathyCHD2 variants are a risk factor for photosensitivity in epilepsyGenetics and genomics of autism spectrum disorder: embracing complexity.2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic ConditionsSCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyGABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Pharmacological Analysis of the Anti-epileptic Mechanisms of Fenfluramine in scn1a Mutant Zebrafish.Epilepsy: old syndromes, new genes.Next generation sequencing and the future of genetic diagnosis.Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.The contribution of next generation sequencing to epilepsy genetics.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Dravet Syndrome: Diagnosis and Long-Term Course.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.The role of genetic testing in epilepsy diagnosis and management.Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.Dravet syndrome and its mimics: Beyond SCN1A.Toward routine genetics-based diagnoses for the epileptic encephalopathies.Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases
P2860
Q21198723-4C3F38F3-0806-40C1-9B54-B79C1212B37EQ26741616-4A66C7F0-C13C-439F-8698-8123B8AC2452Q26776222-F6C335E4-4294-4B29-9CA5-D6120F887B82Q26777746-F52A401B-BB46-4D40-B55B-D83EAB5D0705Q26798035-0AB9F491-A738-4555-BC69-2563183FF227Q26822979-2E23A32D-28C2-43D8-AB03-23221B1B6848Q26861471-428E76FF-306B-4B1B-9AB5-F0EB81AB3ECFQ27349308-8CE31003-673B-4B06-8745-FFF5FC4E0397Q27927007-A071FAC2-D3B4-46B9-8B55-32C44BD82C4AQ28080066-3E986F85-A00A-4C3E-8938-4A2BF6B4BDC6Q33723915-1473D25C-E605-41BF-AAA8-55AD580E6A3EQ33770872-553A04F3-728A-480C-8E5E-228CBD3F80F5Q33827328-D4CD2D81-40D7-44E2-965A-C8C80720904BQ34447144-4591EDF6-D9E9-4005-A68F-6F3C4C25163CQ34520690-FEB479B7-2571-4C68-9D0B-43444137D93DQ34613797-1A1E12B3-B6AB-42F4-B0D4-72891D37B4ECQ35235370-C122C30D-8EF7-410A-9590-AEB36C62E8FFQ35529727-B0F3DC93-BA90-4692-815D-3410167F42E2Q36363394-43614EEB-74BC-4F52-976E-4BE4A85BC7E0Q37021052-2494C794-824E-4057-884B-7F3941655120Q37591772-CEDA9155-3F03-4C0A-B73E-3FDB9AEF4864Q37604522-FAC5E30C-1F99-41BE-8F26-F841EECF9F8FQ37725930-DCA11023-4CAC-4079-AA65-C26DB8D8C876Q37739145-C589221E-5C78-464D-88F0-23027A4E15A5Q38205181-5838B941-0E05-4788-9A19-61F42BDBA262Q38232771-B41A3445-0393-42B7-B8F7-C1244E741571Q38247539-292A5046-995F-43D5-B92A-A6E784CA6618Q38576243-CCC48020-FBCB-40B9-9E5E-82D3BF4D3C1BQ38632636-F8E995A1-6FA4-403D-9C10-CBBC6B1B5758Q38646965-2C9E4E65-5FDA-4BA5-B74F-E759C11896EBQ38855478-DF22AA67-89ED-49D3-94E8-B30EB63CE469Q39147509-22BF9DA5-A1D9-4BCC-B6E4-E6FF74F41007Q39332606-F5936E3F-B22A-4DBC-AB53-0F271F2E9FC5Q39417475-FAC4FCEB-33D0-4225-B701-1F78836AE513Q39457643-F661E585-6C89-4A91-AD86-BA13DED08379Q39701900-E5A44514-4EEA-4039-93B4-DB3EEAA98261Q40040294-727A2B6E-D7B1-44BD-B1B3-C6D81520CE6FQ40053862-8EF4831C-470F-4758-AB47-BD9CD8E296E4Q41337599-A4374F1F-8402-4DAA-9347-297D1F6EC3F7Q41507254-8CC79425-A79E-45BD-9F3C-D2277EED0343
P2860
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
De novo loss-of-function mutat ...... features with Dravet syndrome
@ast
De novo loss-of-function mutat ...... features with Dravet syndrome
@en
De novo loss-of-function mutat ...... features with Dravet syndrome
@nl
type
label
De novo loss-of-function mutat ...... features with Dravet syndrome
@ast
De novo loss-of-function mutat ...... features with Dravet syndrome
@en
De novo loss-of-function mutat ...... features with Dravet syndrome
@nl
prefLabel
De novo loss-of-function mutat ...... features with Dravet syndrome
@ast
De novo loss-of-function mutat ...... features with Dravet syndrome
@en
De novo loss-of-function mutat ...... features with Dravet syndrome
@nl
P2093
P2860
P50
P3181
P1476
De novo loss-of-function mutat ...... features with Dravet syndrome
@en
P2093
Aleksandra Siekierska
Alexander D Crawford
Angela Kecskés
Beatriz G Giraldez
Catrinel M Iliescu
Christel Depienne
Cihan Meral
Dorota Hoffman-Zacharska
Elzbieta Szczepanik
Gerhard Kluger
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.09.017
P407
P50
P577
2013-11-07T00:00:00Z