Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

Keyphrases

• Affected Family Members 25%
• All-affected 25%
• Dravet Syndrome 25%
• Environmental Modifiers 25%
• Epilepsy Syndrome 25%
• Exon 21 25%
• Extreme Phenotypes 25%
• Familial Epilepsy 25%
• Febrile Seizures 50%
• Febrile Seizures Plus 25%
• Genetic Epilepsy with Febrile Seizures Plus (GEFS+) 100%
• Genetic Factors 25%
• Genetic Generalized Epilepsy 75%
• Genetic Modifiers 25%
• Israeli 25%
• Missense mutation 25%
• Phenotype Distribution 25%
• Phenotypic Heterogeneity 100%
• Proband 25%
• SCN1A 25%
• SCN1A mutation 100%
• Severe Phenotype 25%
• Unaffected Carrier 25%

Neuroscience

• Dravet Syndrome 25%
• Exon 25%
• Febrile Seizure 100%
• Generalized Epilepsy with Febrile Seizures Plus 75%
• Genetic Generalized Epilepsy 75%
• Missense Mutation 25%