Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. - Test2 - elhamkhani - TriplyDB

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

http://www.wikidata.org/entity/Q37179285

about

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy Functional Properties of Human Stem Cell-Derived Neurons in Health and Disease Sudden unexpected death in epilepsy: Identifying risk and preventing mortality Using Patient-Derived Induced Pluripotent Stem Cells to Model and Treat Epilepsies Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Proceedings: consideration of genetics in the design of induced pluripotent stem cell-based models of complex disease Epileptic encephalopathies: new genes and new pathways Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells Molecular mechanisms of epilepsy Biological and medical applications of a brain-on-a-chip Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.Seizures and epilepsy: an overview for neuroscientists SCN8A encephalopathy: Research progress and prospects Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome WONOEP appraisal: new genetic approaches to study epilepsy Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.Beyond the hammer and the scalpel: selective circuit control for the epilepsies Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.Modeling human neurological disorders with induced pluripotent stem cells.Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy Connectivity and circuitry in a dish versus in a brain Probing disorders of the nervous system using reprogramming approaches.Reprogramming patient-derived cells to study the epilepsies Pharmacotherapy for Dravet Syndrome.Incidence of Dravet Syndrome in a US Population.Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome.Model systems for studying cellular mechanisms of SCN1A-related epilepsy.Genetic forms of epilepsies and other paroxysmal disorders Pathway-driven discovery of epilepsy genes.2014 Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression.2014 Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across The Lifespan A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.The translational potential of human induced pluripotent stem cells for clinical neurology : The translational potential of hiPSCs in neurology.Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.iPS cell technologies: significance and applications to CNS regeneration and disease.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.

P2860

Q21089741-C4C55A03-9714-4B12-B37B-F3F39D7763D1 Q24304239-B4970372-9160-4915-B712-0F87DAB5EC26 Q26747622-52B05C08-DA42-4335-B3B1-9CF11DEF260E Q26780360-F783E8F5-047D-4FA1-9B01-565B83D7595A Q26796332-4323E01E-E760-4A3B-9FAC-E2F0B3F80EFA Q26861471-772D42E6-3A13-4523-BEB3-4FC953605104 Q26999033-493A01B0-8400-4B16-80C1-D26B89AB724A Q27027982-22CF6F22-99E5-41FC-B097-68D6A0BBD29C Q28080219-6DC0BCBF-9DB2-4E54-B53A-FC73452CED34 Q28081651-36F7088E-D897-4C44-9B0E-F595E445C72F Q28087505-5C03A627-2037-43E8-8168-198982A47046 Q28973613-70E95633-06DA-4B5B-84F1-79CEB7D63D31 Q30847511-0DC4A9A7-EA4E-41CA-86C5-220193BD6F3F Q33165796-04687760-A6AF-4445-926B-A61A06468FDA Q33866136-A8ECFE96-CEFD-43F9-A818-B9F219004B7B Q34002328-3093434B-D4B6-4398-9929-34010E138EF8 Q34021111-832DE531-C00E-44C4-832C-4FD7F4265E1E Q34382820-6122F8ED-EF18-4EE0-8225-CD53BF0D4D0C Q34464281-02BDBA24-467E-4420-85EC-2487D0BE2CAA Q34845881-1C524ADE-60DC-488C-B49D-C98F568EBC12 Q35056065-F843F50E-B4F3-46F2-AF79-1DC67DEACE81 Q35597578-CE620CBB-C809-4289-8EDF-2C9BF9FA11E2 Q35684598-0C3F7E92-0B2E-4AF8-8973-6CD667E700FE Q35761135-684112D0-62E1-403E-81C8-31EC70D514E6 Q35789597-BDEA2164-FA23-48AA-B5B6-C8336755B0DA Q35953476-300C3979-9878-4D8C-A49A-A0119F12B2BD Q36210601-420B4D08-F18A-4678-8200-1322D2C8513C Q36245909-F88870AA-877E-4DD8-B0F0-6487C835FFDE Q36760270-F00A1EDF-B6CA-4E93-926C-3F5BECCA1251 Q36805699-2D79D853-C3F4-4037-B41D-6315CD824545 Q36854796-0C4600B9-5B7D-4EC2-AA81-513FE70E509E Q37021058-8660E63C-1E3E-4B1D-8C35-CA3DD42776EB Q37021068-15542DEC-6E36-41A9-91E1-0C1D1F5FE874 Q37127359-E4F96606-9F4C-43CA-8E2F-2EE6FDBDB23D Q37223382-9C78A4A3-DC19-4E04-BE6B-EBBAB7C032DD Q37347828-7832FB76-6B0F-4581-820E-CF0DFD95D284 Q37666286-6D1C2AB2-209C-4C46-8AB3-E7B6546458F4 Q37670832-085F5A58-C50E-4F7C-95CD-22402AE75D12 Q37688424-39D715A0-E251-447C-A951-E81A9B66A939 Q38187700-944BEE49-B2AF-4432-BEC3-574AE1F69105

P2860

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

http://www.wikidata.org/entity/Q37179285

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 02 July 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

@en

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

@nl

type

label

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

@en

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

@nl

prefLabel

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

@en

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

@nl

P1433

Q37179285-6F3BBD1F-E9C7-4FDE-9ABF-6A5136489826

P1476

Q37179285-D0872316-0A45-4FC4-B986-A1FD5C91E1DA

P2093

Q37179285-1384475F-CC8D-428A-B4D8-D33F777DFB20

Q37179285-17841A84-0A03-422E-A1DF-43B63270763D

Q37179285-2D0A23DD-A02B-406E-B80E-4219E08CB16D

Q37179285-4B67CA9B-5FB5-4E6F-8BB7-6B61FD2819D6

Q37179285-764B506E-DF86-477A-B745-103F550BDD1D

Q37179285-7920384B-48F2-4F70-81AC-559489472766

Q37179285-80F059F6-D2C7-4920-89DE-8B06FC97E74F

Q37179285-85406EB1-2CE8-48F7-BE8D-7363DE5E42D8

Q37179285-86F9DF98-4478-4869-B56B-E8B327679B70

Q37179285-A8630AFB-02E9-477A-A064-79D35DF61ED8

P2860

Q37179285-1165D350-B479-4110-A62B-D0FF8F462BD0

Q37179285-1E8A6287-2285-47C3-94FD-474AC3C75BB4

Q37179285-24A7E665-FDC7-4213-94BB-97EE069D89FC

Q37179285-397ABE66-3487-4BEF-9790-284A2D0557C8

Q37179285-40FAFF36-AFB0-43DC-BB48-DBC7AF85A93E

Q37179285-4133FAD9-3EF5-4147-B688-EF7168D434F4

Q37179285-43BEE2E2-956F-4C01-A981-85355ACE0D4A

Q37179285-46705EE7-5921-4884-AACE-CD294387945D

Q37179285-52D98E0E-2433-4FA9-8A23-9C1EC8965C67

Q37179285-55974AB6-C143-4498-9BB9-B3688C552029

P304

Q37179285-E3B26B15-F006-4844-A3BF-FD61AA48E9A0

P31

Q37179285-6238F674-976E-4B43-A365-50BCC4D8812C

P356

Q37179285-F49F2085-B9ED-4725-9D87-BB52D2C328D0

P433

Q37179285-1BF03495-728A-4AD4-99A3-5E23B2E26007

P478

Q37179285-35EB14BD-6B3E-434D-9159-3A578C7BADF6

P50

Q37179285-0AF084F6-ADD4-40EE-BEB5-F2D49AEF598D

P577

Q37179285-A093F030-5817-4A9A-8080-B6A46B148EC7

P5875

Q37179285-CE5915FB-C65F-49BC-B134-C3B92411A77D

P698

Q37179285-9876E73A-FD29-4B1E-9EAE-B29DEA99B549

P921

Q37179285-EBC94358-7C65-449A-8676-F25CB88A2C0B

P932

Q37179285-862114CC-E3C6-4065-A543-BD192AE44043

P356

P1433

Annals of Neurology

P1476

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

@en

P2093

Ajay Gupta

http://www.w3.org/2001/XMLSchema#string

Gustavo A Patino

http://www.w3.org/2001/XMLSchema#string

Heather A O'Malley

http://www.w3.org/2001/XMLSchema#string

Helen Zhang

http://www.w3.org/2001/XMLSchema#string

Jack M Parent

http://www.w3.org/2001/XMLSchema#string

Janelle E O'Brien

http://www.w3.org/2001/XMLSchema#string

Julie M Jones

http://www.w3.org/2001/XMLSchema#string

Luis F Lopez-Santiago

http://www.w3.org/2001/XMLSchema#string

Marvin R Natowicz

http://www.w3.org/2001/XMLSchema#string

Miriam H Meisler

http://www.w3.org/2001/XMLSchema#string

P2860

Investigating synapse formation and function using human pluripotent stem cell-derived neurons

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

Disease-specific induced pluripotent stem cells

Induced pluripotent stem cell lines derived from human somatic cells

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

P304

128-139

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/ANA.23897

http://www.w3.org/2001/XMLSchema#string

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

74

http://www.w3.org/2001/XMLSchema#string

P50

P577

2013-07-02T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

244992715

http://www.w3.org/2001/XMLSchema#string

P698

23821540

http://www.w3.org/2001/XMLSchema#string

P921

P932

3775921

http://www.w3.org/2001/XMLSchema#string