The spectrum of SCN1A-related infantile epileptic encephalopathies. - Wikidata - awgldk - TriplyDB

The spectrum of SCN1A-related infantile epileptic encephalopathies.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

http://www.wikidata.org/entity/Q48249670

about

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Genetic epileptic encephalopathies: is all written into the DNA?Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Epileptic encephalopathies: new genes and new pathways Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome Crystal Structure of the Ternary Complex of a NaV C-Terminal Domain, a Fibroblast Growth Factor Homologous Factor, and Calmodulin Genetic aspects of autism spectrum disorders: insights from animal models Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report Understanding Genotypes and Phenotypes in Epileptic Encephalopathies Epilepsy and mental retardation limited to females: an under-recognized disorder Prioritizing the development of mouse models for childhood brain disorders Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking Musicogenic seizures in Dravet syndrome.A retrospective population-based study on seizures related to childhood vaccination.Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome Curing epilepsy: progress and future directions Genetic testing in the epilepsies--report of the ILAE Genetics Commission Genetics of epilepsy: The testimony of twins in the molecular era High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction.Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.The hidden genetics of epilepsy-a clinically important new paradigm.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.Benign childhood focal epilepsies: assessment of established and newly recognized syndromes.Epilepsy and the new cytogenetics.Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?De novo SCN1A mutations in migrating partial seizures of infancy.Altered GABA signaling in early life epilepsies.Genetic testing in epilepsy: what should you be doing?Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients.Pharmacotherapy for Dravet Syndrome.Cognitive Deficits Associated with Nav1.1 Alterations: Involvement of Neuronal Firing Dynamics and Oscillations Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

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P2860

The spectrum of SCN1A-related infantile epileptic encephalopathies.

http://www.wikidata.org/entity/Q48249670

description

2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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2007年學術文章

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name

The spectrum of SCN1A-related infantile epileptic encephalopathies.

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The spectrum of SCN1A-related infantile epileptic encephalopathies.

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type

label

The spectrum of SCN1A-related infantile epileptic encephalopathies.

@en

The spectrum of SCN1A-related infantile epileptic encephalopathies.

@nl

prefLabel

The spectrum of SCN1A-related infantile epileptic encephalopathies.

@en

The spectrum of SCN1A-related infantile epileptic encephalopathies.

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The spectrum of SCN1A-related infantile epileptic encephalopathies.

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Alison Gardner

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Eva Andermann

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Frederick Andermann

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Infantile Epileptic Encephalopathy Referral Consortium

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James T Pelekanos

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Jeffrey G Jones

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Jing Wang

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John C Mulley

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Kevin Farrell

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Leanne Dibbens

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P2860

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

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

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

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

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

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

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843-852

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scholarly article

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10.1093/BRAIN/AWM002

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Pt 3

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130

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Ingrid Scheffer

Mary B Connolly

Jacinta M McMahon

Sameer M Zuberi

Samuel Berkovic

Grant R Sutherland

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2007-03-01T00:00:00Z

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6460171

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17347258

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