Gain-of-function HCN2 variants in genetic epilepsy.

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A Loss-of-Function Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

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Q58798982-557AA918-41EB-45D8-BE9C-51E526FED641

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Gain-of-function HCN2 variants in genetic epilepsy.

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http://www.wikidata.org/entity/Q47590313

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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Gain-of-function HCN2 variants in genetic epilepsy.

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Gain-of-function HCN2 variants in genetic epilepsy.

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Item

label

Gain-of-function HCN2 variants in genetic epilepsy.

@en

Gain-of-function HCN2 variants in genetic epilepsy.

@nl

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Gain-of-function HCN2 variants in genetic epilepsy.

@en

Gain-of-function HCN2 variants in genetic epilepsy.

@nl

P1476

Gain-of-function HCN2 variants in genetic epilepsy

@en

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A Marie Phillips

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Holger Lerche

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

Holger Thiele

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

Ingrid E Scheffer

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

Judith L Weisenberg

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

Julian Schubert

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

Liu Lin Thio

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

Melody Li

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Michael Wong

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Pasquale Striano

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P2860

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

Association between genetic variation of CACNA1H and childhood absence epilepsy

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

Genetic variation of CACNA1H in idiopathic generalized epilepsy

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2

Occipital epilepsies: identification of specific and newly recognized syndromes.

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202-209

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scholarly article

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10.1002/HUMU.23357

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P433

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

P478

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

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Michael S. Hildebrand

Federico Zara

Christopher A Reid

Snezana Maljevic

P577

2017-11-13T00:00:00Z

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

P698

29064616

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Gain-of-function HCN2 variants in genetic epilepsy.

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P2860

P2860

Gain-of-function HCN2 variants in genetic epilepsy.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698