Lack of SCN1A Mutations in Familial Febrile Seizures
نویسندگان
چکیده
منابع مشابه
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
Febrile seizures (FS) affect 5-12% of infants and children up to 6 years of age. There is now epidemiological evidence that FS are associated with subsequent afebrile and unprovoked seizures in approximately 7% of patients, which is 10 times more than in the general population. Extensive genetic studies have demonstrated that various loci are responsible for familial FS, and the FEB3 autosomal-...
متن کاملCharacteristics of the initial seizure in familial febrile seizures.
Complex seizure characteristics in patients with a positive family history were studied to define familial phenotype subgroups of febrile seizures. A total of 51 children with one or more affected first degree relatives and 177 without an affected first degree relative were compared for history of complex characteristics of the initial febrile seizure. No difference was found in the frequency o...
متن کاملReplication of association between a SCN1A splice variant and febrile seizures.
In the present study, we assessed a SCN1A single nucleotide polymorphism (SNP) (rs3812718, IVS5N+5 G>A), first analyzed by Schlachter et al. We genotyped 164 patients with febrile seizures (FS) [of those 62 adults with focal epilepsy (FEFS(+)) and 102 children with pure FS (Pure FS)] and 199 matched controls. Moreover, we also tested a third subgroup of 113 patients with focal epilepsy syndrome...
متن کاملSeizure and Behavioral Phenotyping of the Scn1a Mouse Model of Genetic Epilepsy with Febrile Seizures Plus
___________________________________ Date This dissertation meets the format and style requirements established by the Byrdine F. Lewis School of Nursing and Health Professions. It is acceptable for binding, for placement in the University Library and Archives, and for reproduction and distribution to the scholarly and lay community by University Microfilms International. In presenting this diss...
متن کاملPRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients
Previous studies reported that the proline-rich transmembrane protein 2 (PRRT2) gene was identified to be related to paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with PKD, PKD with migraine and benign familial infantile epilepsy (BFIE). The present study explores whether the PRRT2 mutation is a potential cause of febrile seizures, including febrile seizures plus (FS+), general...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2002
ISSN: 0013-9580,1528-1167
DOI: 10.1046/j.1528-1157.2002.29301.x