SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures - Wikidata - awgldk - TriplyDB

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

http://www.wikidata.org/entity/Q36052955

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Understanding Genotypes and Phenotypes in Epileptic Encephalopathies Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.SCN8A encephalopathy: Research progress and prospects Molecular subtyping and improved treatment of neurodevelopmental disease.Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures.KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.DNM1 encephalopathy: A new disease of vesicle fission.Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Precision medicine in genetic epilepsies: break of dawn?The influence of sodium on pathophysiology of multiple sclerosis.Pharmacogenomics in epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Stiripentol in the Management of Epilepsy.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Dravet syndrome and its mimics: Beyond SCN1A.Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12 Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.Brain activity patterns in high-throughput electrophysiology screen predict both drug efficacies and side effects.Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.SCN3A deficiency associated with increased seizure susceptibility.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.[Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].Recent Advances in Neonatal Seizures.Progress in Understanding and Treating SCN2A-Mediated Disorders.Common terms for rare epilepsies: Synonyms, associated terms, and links to structured vocabularies.A Model Program for Translational Medicine in Epilepsy Genetics.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Classification of the epilepsies: New concepts for discussion and debate-Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology.

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

http://www.wikidata.org/entity/Q36052955

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2015年论文

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2015年论文

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2015年论文

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

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Dimira Tambunan

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Katherine B Howell

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P2860

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Clinical application of exome sequencing in undiagnosed genetic conditions

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

Sodium-channel defects in benign familial neonatal-infantile seizures

SCN1A mutations and epilepsy

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism

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