Benign Infantile Convulsions

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.

PURPOSE PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal e...

Case of Infantile Convulsions

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.

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

BACKGROUND Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in Chinese families with BFIE and ICCA. METHODS Clinical data were collected from 22 families with ...

Benign infantile convulsions associated with mild gastroenteritis: An electroclinical study of 34 patients

PURPOSE To analyze the electroclinical features and evolution of patients diagnosed with convulsions with mild gastroenteritis (CwG) from southwest China. METHODS We reviewed and analyzed the medical records of 34 patients (13 males) diagnosed with CwG and followed-up for at least 12 months. RESULTS The age of onset was 6-29 months and the female/male ratio 1.62. Seizures were generalized i...