Benign Familial Convulsions
نویسندگان
چکیده
منابع مشابه
Benign familial neonatal convulsions.
Benign familial neonatal convulsions are a rare genetic seizure disorder inherited as an autosomal dominant trait. They consist of brief episodes of seizures, recurring during the first few days or weeks of life in otherwise normal babies; their prognosis is good. We report a family in which at least 12 members in three generations presented with this condition; they all had an excellent outcome.
متن کاملBenign familial neonatal convulsions: abnormal intrauterine movements, provocation by feeding and ICTAL EEG
An infant with benign familial neonatal convulsions had abnormal movements during the last 2 months of pregnancy suggestive of intrauterine seizures. His postnatal seizures, one of which was captured by electroencephalography, had both partial and generalized features. Most seizures appeared to be provoked by feeding.
متن کاملTwo Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions
Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel s...
متن کامل[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].
OBJECTIVE To diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis. METHODS All family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in...
متن کاملBenign familial neonatal convulsions; psychosocial adjustment to the threat of recurrent seizures
Forty families have experienced benign familial neonatal convulsions (BFNC) since it was first described by Rett and Teubel in 1964. [Rett, A. and Teubel, R. Neugeborenen Krampfe im Rahmen einer epileptisch belasten Familie. Wiener Klinische Wochenschrift 1964; 76: 609-613.] Diagnosis is based on a benign neonatal course, family history, and seizures which usually end spontaneously by six month...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1994
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-8-5-3