Associated Papers
Shared genetics in epilepsy and migraine: A scoping review.
Sahu P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.
Stawicka E et al.
Current Issues in Molecular Biology, 2024
Case report: Late onset type 3 hemiplegic migraine with permanent neurologic sequelae after attacks.
Jokubaitis M et al.
Frontiers in Neurology, 2024
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
Azzarà A et al.
Genes, 2023
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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The effect of alterations of schizophrenia-associated genes on gamma band oscillations.
Metzner C et al.
Schizophrenia (heidelberg, Germany), 2022
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L et al.
Genes, 2022
SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes.
Ma R et al.
Frontiers in Molecular Neuroscience, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.
Gotra P et al.
Molecular Neurobiology, 2021
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
Rampazzo ACM et al.
Neurogenetics, 2021
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification.
Tang B et al.
Briefings in Bioinformatics, 2020
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Damiano JA et al.
Annals of Neurology, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Identification of potential candidate genes and pathways in atrioventricular nodal reentry tachycardia by whole-exome sequencing.
Luo R et al.
Clinical and Translational Medicine, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V et al.
The Turkish Journal of Pediatrics, 2020
Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.
Barbieri R et al.
The Journal of Headache and Pain, 2019
Advances in genetics of migraine.
Sutherland HG et al.
The Journal of Headache and Pain, 2019
Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.
Mäki-Marttunen T et al.
Cerebral Cortex (new York, N.y. : 1991), 2019
Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.
Schubert V et al.
Cephalalgia : an International Journal of Headache, 2018
Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report.
Shao N et al.
Frontiers in Neurology, 2018
Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.
Mäki-Marttunen T et al.
Translational Psychiatry, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.
Sutherland HG et al.
Headache, 2017
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
Fan C et al.
Cephalalgia : an International Journal of Headache, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D et al.
Plos One, 2016
Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.
Barros J et al.
Cephalalgia : an International Journal of Headache, 2014
A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.
Jingami N et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2014
When is a child with status epilepticus likely to have Dravet syndrome?
Le Gal F et al.
Epilepsy Research, 2014
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
Avdjieva-Tzavella DM et al.
Genetic Counseling (geneva, Switzerland), 2014
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.
Cestèle S et al.
Epilepsia, 2013
SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.
Frosk P et al.
Journal of Child Neurology, 2013
Dissecting the genetic basis of myoclonic-astatic epilepsy.
Tang S et al.
Epilepsia, 2012
One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
Yordanova I et al.
Neuroscience Letters, 2011
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Lin WD et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Chou IC et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Lin WD et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Chou IC et al.
Human Genetics, 2010
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.
Gargus JJ
Annals of the New York Academy of Sciences, 2009
Genetics of migraine: an update with special attention to genetic comorbidity.
Stam AH et al.
Current Opinion in Neurology, 2008
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
Gargus JJ et al.
Pediatric Neurology, 2007
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg A et al.
American Journal of Human Genetics, 2001
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
Avdjieva-Tzavella DM et al.
Genetic Counseling (geneva, Switzerland), 0