SCN1A testing for epilepsy: application in clinical practice. - Wikidata - awgldk - TriplyDB

SCN1A testing for epilepsy: application in clinical practice.

SCN1A testing for epilepsy: application in clinical practice.

http://www.wikidata.org/entity/Q50748696

about

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Epileptic encephalopathies: new genes and new pathways De novo KCNB1 mutations in epileptic encephalopathy.Molecular Genetics of Epilepsy: A Clinician's Perspective.Genetic testing in the epilepsies-developments and dilemmas.Role of the axonal initial segment in psychiatric disorders: function, dysfunction, and intervention Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies Genetic testing preferences in families containing multiple individuals with epilepsy.Pathway-driven discovery of epilepsy genes.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Epilepsy: old syndromes, new genes.Dravet syndrome--from epileptic encephalopathy to channelopathy.Dravet Syndrome: Diagnosis and Long-Term Course.Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Pitfalls in genetic testing: the story of missed SCN1A mutations.Genetics of Epilepsy in Clinical Practice.A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation.De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.Novel and de novo mutations in pediatric refractory epilepsy

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P2860

SCN1A testing for epilepsy: application in clinical practice.

http://www.wikidata.org/entity/Q50748696

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

@zh-hant

name

SCN1A testing for epilepsy: application in clinical practice.

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SCN1A testing for epilepsy: application in clinical practice.

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type

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SCN1A testing for epilepsy: application in clinical practice.

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SCN1A testing for epilepsy: application in clinical practice.

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prefLabel

SCN1A testing for epilepsy: application in clinical practice.

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SCN1A testing for epilepsy: application in clinical practice.

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SCN1A testing for epilepsy: application in clinical practice

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Alica M Goldman

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

Carla Marini

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

Daniel H Lowenstein

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

Eva Andermann

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

Genetics Commission of the International League Against Epilepsy

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

Marcelo Kauffman

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

Peter De Jonghe

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

Sanjay M Sisodiya

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

P2860

Radicals r'aging.

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group

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

The pharmacologic treatment of Dravet syndrome

Epilepsy and mental retardation limited to females: an under-recognized disorder

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.

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946-952

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scholarly article

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10.1111/EPI.12168

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5

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P478

54

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Ingrid Scheffer

Shinichi Hirose

Samuel Berkovic

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2013-04-15T00:00:00Z

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262042989

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23586701

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