Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. - Wikidata - awgldk - TriplyDB

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

http://www.wikidata.org/entity/Q40447546

about

Clinical application of exome sequencing in undiagnosed genetic conditions The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Epileptic syndromes: From clinic to genetic Sudden unexpected death in a mouse model of Dravet syndrome.Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.Epilepsy genetics--past, present, and future Genetically complex epilepsies, copy number variants and syndrome constellations.Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study Epilepsy and the new cytogenetics.Genetic variations and associated pathophysiology in the management of epilepsy.Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood.Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.The core Dravet syndrome phenotype.The genetics of Dravet syndrome.Dravet syndrome history.Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.Pharmacogenomics and epilepsy: the road ahead.Na+ channelopathies and epilepsy: recent advances and new perspectives.Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention.Dravet Syndrome: Diagnosis and Long-Term Course.Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.Precision medicine in genetic epilepsies: break of dawn?The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.Febrile seizures: an epidemiological and outcome study of 482 cases.Channeling into the epilepsies.Comorbidities and predictors of health-related quality of life in Dravet syndrome.QT and P wave dispersion and heart rate variability in patients with Dravet syndrome.Electrical and autonomic cardiac function in patients with Dravet syndrome.Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

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P2860

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

http://www.wikidata.org/entity/Q40447546

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2007 nî lūn-bûn

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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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2007年學術文章

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities

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Ana I Dias

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Ana Moreira

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Brian Neville

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Carla Marini

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Charlotte Dravet

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Daniela Buti

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Eulalia Calado

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Helen J Cross

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Juan Narbona

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Renzo Guerrini

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P2860

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

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

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

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

SCN1A mutations and epilepsy

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

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Roberto Michelucci

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