about
Conceptualizing lennox-gastaut syndrome as a secondary network epilepsyDe novo mutations in moderate or severe intellectual disabilityCHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsCharacterization of a de novo SCN8A mutation in a patient with epileptic encephalopathyDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesDe novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeNovel bioinformatic developments for exome sequencingNetwork science for the identification of novel therapeutic targets in epilepsyThe Increasing Importance of Gene-Based AnalysesTargeted Treatment in Childhood Epilepsy SyndromesEarly-onset epileptic encephalopathies and the diagnostic approach to underlying causesGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceAdvancing epilepsy genetics in the genomic eraMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsChromodomain helicase DNA-binding proteins in stem cells and human developmental diseasesClinical and experimental studies of potentially pathogenic brain-directed autoantibodies: current knowledge and future directionsThe neurology of mTORPersonalized medicine and human genetic diversityNeurological aspects of human glycosylation disordersGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsUsing familial information for variant filtering in high-throughput sequencing studiesToward an integrated public health approach for epilepsy in the 21st centuryEpileptic encephalopathies: new genes and new pathwaysPathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesIndependent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic EncephalopathyCHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.Crystal structure of a human GABAA receptorThree rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityNew insights into the generation and role of de novo mutations in health and diseasemTOR and MAPK: from localized translation control to epilepsyHuman GRIN2B variants in neurodevelopmental disordersSeizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune AspectsA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesNext-Generation Sequencing in Intellectual DisabilityMechanisms of sudden unexplained death in epilepsyConcise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem CellsObtaining genetic testing in pediatric epilepsyStatus epilepticus and refractory status epilepticus management
P2860
Q21129424-0178EDCD-A3C7-4B0E-9260-C7C9A7DDD52BQ21144861-CBDF855E-D146-49D4-A93C-047C3B4AEBFFQ21198723-1F45351A-A0C9-4664-AD02-1FF920B3B788Q24304239-4F291F87-B3BD-4F4F-971B-CF826D346D13Q24563008-440FA2EC-4FA4-4C89-B099-B6213E6E5179Q24600816-17025F57-DFDC-4BB6-83FC-070CE998C0A1Q24658618-34457D8B-B44E-4B7D-9F94-A37DFB9D1A9FQ26745355-C7B49C71-1A39-40D9-B423-833782F09D89Q26750946-2445A8B4-DB40-4F70-B71F-03295E02C0D1Q26751431-BD20C177-3256-417C-8DC7-D18D88FACFD9Q26773828-801E3C4A-9016-4FD2-8719-59D1C1C3B473Q26777559-D2713D2A-872B-4D18-97E3-03E934455521Q26777746-3D3E46B6-217E-4D9E-8E15-C9CFFFC40BE3Q26798035-C1022B37-8E70-4D67-B977-AE9513C8B1DBQ26800090-F407DA46-F8E7-4BF5-814B-161B7E56E586Q26822979-BFADDD47-EC7D-44A3-8C55-C4A8765482D9Q26824216-4948ECDF-F5FA-49FA-8A6A-AB7EA98FC685Q26824286-E0CE0C22-7E26-484C-9A0E-610E92A4A325Q26824838-322940F3-EF4C-4CD3-999C-A37A99BB6C64Q26830686-913875A2-6DD3-4569-8AF7-72981F0894E3Q26861471-5973D12B-555E-4610-87DB-C039883A507CQ27008171-3F944993-D29F-426E-A9FD-FC7E14FBEB80Q27011227-5894ECE2-271F-4436-83CF-BCF9B24B0BBDQ27027982-2DA86FBC-F5F2-4097-86FC-8970AF54DF6CQ27308052-22053226-1A21-4E0F-8FD9-D514B7B8B518Q27310768-4B5DC823-89E1-4152-A79A-AA738A67C40EQ27349308-C9E93DD5-1010-4C39-8A8F-A4615B866801Q27644591-3B894173-4818-414A-A8AF-8F72DAFD0BF9Q27683955-9D986E06-0F8A-4457-8C4D-684B2E641D5AQ28073446-2060FF90-DFA2-4F1E-BD9A-B0A9CEC19CC6Q28076827-3C4788A7-B2E5-49AD-AC82-34DD37A6A2D6Q28078173-920D57BB-CC3A-483A-A726-FDC32448B8ABQ28079865-AA562F97-4E04-4037-BCDD-AE93396F67A4Q28079929-66EE3631-5E20-4B2E-990A-E30570981C98Q28080066-28474054-1EBC-44A9-99B8-00BBB9AF5177Q28080074-0C39A63E-9950-45D2-AC2D-D2FAD6017857Q28081176-96069143-257E-43F5-B4F7-3BF9D61E3B4CQ28081651-AE9CCC31-D46C-489B-890A-76C066152CBDQ28082549-4F373DA0-6A8B-4690-B0BD-28B84AAE76D5Q28084594-FA14067B-0660-48F7-9652-3D2E706682B4
P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին 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 mutations in epileptic encephalopathies
@ast
De novo mutations in epileptic encephalopathies
@en
De novo mutations in epileptic encephalopathies
@nl
type
label
De novo mutations in epileptic encephalopathies
@ast
De novo mutations in epileptic encephalopathies
@en
De novo mutations in epileptic encephalopathies
@nl
prefLabel
De novo mutations in epileptic encephalopathies
@ast
De novo mutations in epileptic encephalopathies
@en
De novo mutations in epileptic encephalopathies
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
De novo mutations in epileptic encephalopathies
@en
P2093
Andres Kanner
Andrew S Allen
Annapurna Poduri
Anthony G Marson
Anu Venkat
Bassel Abou-Khalil
Brian K Alldredge
Christopher J Yuskaitis
Damian Consalvo
P2860
P2888
P304
P3181
P356
10.1038/NATURE12439
P407
P50
P577
2013-08-11T00:00:00Z
P5875
P6179
1003744287