De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
about
Genome annotation for clinical genomic diagnostics: strengths and weaknessesGene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.DNM1 encephalopathy: A new disease of vesicle fission.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.Models for discovery of targeted therapy in genetic epileptic encephalopathies.ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.De Novo Coding Variants Are Strongly Associated with Tourette Disorder.GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.Region-specific deletions of the glutamate transporter GLT1 differentially affect seizure activity and neurodegeneration in mice.Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.Genomics-Guided Precise Anti-Epileptic Drug Development.Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.A mutation in GABRB3 associated with Dravet syndrome.Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain DevelopmentReturn of individual results in epilepsy genomic research: A view from the fieldNovel and de novo mutations in pediatric refractory epilepsy
P2860
Q33737782-9499F7AE-5D84-4BB0-B59A-751B6477A984Q37356251-BB5DEC65-FCB8-4392-B13F-A0C3039800B0Q38640554-1FC6D7D5-2517-4D81-A926-E1E3D67FE1A7Q38655437-5A494760-8FB0-4075-8118-EEDE83A9D345Q38699304-718B7232-A8E2-45BF-B270-7D3B742F98A8Q38795017-07D40E55-CA46-4AA6-A2E5-DBE326C10591Q38824410-9AAD2285-2E4C-4D63-8B55-755717940DEBQ38907206-3B9E6008-F9B2-4015-A524-565B91A81A8FQ39457643-2EC73894-60F0-4F01-B3E1-B3273D4EBD7FQ40059459-88166CC0-9FC5-4A05-8DD3-0EFA65E63FCDQ41173172-363EE983-8817-434E-A07F-B7D30C708541Q46085643-F50A1CB3-9BB9-486B-B07F-1D87D2EFAD15Q46336324-B76B0398-128F-41FB-9146-04C181273E01Q47109359-EF183FA2-229A-4990-86E3-BCA04D3483A3Q47156246-49822AAB-F087-47F3-A2A2-5EDEA3F103ABQ47269323-36363B36-6565-43E1-A110-7F81E4DEE2F7Q47351608-9CB85489-FAE3-4358-B5E9-37B781442B60Q47549407-0811EA8B-A30A-4471-8610-076275D1F9A0Q47581915-82A90EBC-ABB6-4F09-BAD2-6621B02AF6DEQ47757149-D0BC4DB2-A4CA-4FA5-BEF5-0DDF42622C4EQ47778090-AD691A61-14B0-4045-856F-5CCF461D3FFCQ47928721-630420F9-5A9E-410A-9A6A-99B8FF54419AQ48023990-C83B52BF-341B-4A19-8C97-9A715262BE35Q48150747-BB10B631-94BA-4918-83BD-C102166F2BC2Q48205045-ED94899C-A0E1-40F9-B9F0-C87B0EF27E4BQ48220783-2F5DF368-A99F-44D3-A481-7E329ABBD1A8Q48634670-926A24B5-DF8C-4ACC-822A-6C4388FD1C23Q50440880-BDD6A09A-FFD6-4D8F-86C2-7863CA506DC8Q55060113-632D4659-5A63-4339-BBC0-34CB033AFB11Q57073696-9A4533A1-3076-4772-8539-15F930987C39Q57163463-9EAED4A1-EAA9-4265-8DDD-9916FDC8080CQ57646598-AE7E20EC-1E85-4F36-9ADB-DE31D4698006
P2860
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 27 July 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
De Novo Mutations in SLC1A2 an ...... of Epileptic Encephalopathies.
@en
De Novo Mutations in SLC1A2 an ...... of Epileptic Encephalopathies.
@nl
type
label
De Novo Mutations in SLC1A2 an ...... of Epileptic Encephalopathies.
@en
De Novo Mutations in SLC1A2 an ...... of Epileptic Encephalopathies.
@nl
prefLabel
De Novo Mutations in SLC1A2 an ...... of Epileptic Encephalopathies.
@en
De Novo Mutations in SLC1A2 an ...... of Epileptic Encephalopathies.
@nl
P2860
P1476
De Novo Mutations in SLC1A2 an ...... of Epileptic Encephalopathies.
@en
P2093
Epi4K Consortium
Epi4K Consortium. Electronic address: epi4k@columbia.edu
P2860
P304
P356
10.1016/J.AJHG.2016.06.003
P407
P577
2016-07-27T00:00:00Z