Associated Papers
Epileptogenic focal lesions in Dravet syndrome: A warning to investigators.
Ventura R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L et al.
Genes, 2022
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V et al.
The Turkish Journal of Pediatrics, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
Coll M et al.
Plos One, 2017
Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
Coll M et al.
International Journal of Legal Medicine, 2016
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Maksemous N et al.
Molecular Genetics & Genomic Medicine, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D et al.
Plos One, 2016
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
Toldo I et al.
The Journal of Headache and Pain, 2011
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C et al.
Journal of Medical Genetics, 2009
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
de Vries B et al.
Neurology, 2007
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace RH et al.
American Journal of Human Genetics, 2001