Pages that link to "Q58417059"

The following pages link to A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A (Q58417059):

Displaying 41 items.

• Epileptic syndromes: From clinic to genetic (Q28085388) (← links)
• Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females (Q33408779) (← links)
• Genetic testing in the epilepsies--report of the ILAE Genetics Commission (Q33794130) (← links)
• Genetically complex epilepsies, copy number variants and syndrome constellations (Q34334100) (← links)
• Epilepsy and the new cytogenetics (Q34814385) (← links)
• A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family (Q34997835) (← links)
• Copy number variation plays an important role in clinical epilepsy (Q35804664) (← links)
• Role of genetics in the diagnosis and treatment of epilepsy (Q36688976) (← links)
• Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype (Q36771264) (← links)
• Channelopathies in idiopathic epilepsy (Q36774738) (← links)
• Genetic variations and associated pathophysiology in the management of epilepsy. (Q36925220) (← links)
• Navigating the channels and beyond: unravelling the genetics of the epilepsies (Q37085097) (← links)
• Forty years from markers to genes (Q37220081) (← links)
• Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain (Q37523411) (← links)
• Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations (Q37576848) (← links)
• The genetics of Dravet syndrome. (Q37861258) (← links)
• Update on rufinamide in childhood epilepsy (Q37906275) (← links)
• Genetics of epilepsy and relevance to current practice (Q38012351) (← links)
• Developmental psychopathology: the role of structural variation in the genome (Q38051773) (← links)
• Development of individualized medicine for epilepsy based on genetic information (Q38178326) (← links)
• Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy (Q38566303) (← links)
• Alleged Cases of Vaccine Encephalopathy Rediagnosed Years Later as Dravet Syndrome (Q40315179) (← links)
• A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome (Q40337867) (← links)
• Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. (Q40447546) (← links)
• Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (Q42658858) (← links)
• CNVs in Epilepsy (Q42783369) (← links)
• A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation (Q42926147) (← links)
• Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures (Q43166554) (← links)
• SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. (Q43757795) (← links)
• Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings (Q45897971) (← links)
• Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies (Q47269323) (← links)
• Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline (Q48033009) (← links)
• Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. (Q48183901) (← links)
• The spectrum of SCN1A-related infantile epileptic encephalopathies (Q48249670) (← links)
• Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients (Q48825413) (← links)
• The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009. (Q50565779) (← links)
• SCN1A testing for epilepsy: application in clinical practice. (Q50748696) (← links)
• Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study (Q57808231) (← links)
• Refractory, life-threatening status epilepticus in a 3-year-old girl (Q80704085) (← links)
• One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene (Q83592640) (← links)
• Low long-term efficacy and tolerability of add-on rufinamide in patients with Dravet syndrome (Q84213014) (← links)