Clinical and inheritance profile of familial childhood epilepsy in Jordan

Purpose: To present the clinical profiles and inheritance patterns of familial childhood epilepsy in the highly consanguineous population of Jordan.

Methods: This retrospective study examined children diagnosed with epilepsy and having at least one epileptic parent or sibling. The epilepsy type was classified according to the criteria of the International League Against Epilepsy. Patients were monitored for a period of 6 months to 5 years.

Results: The study population included 39 children belonging to 31 families; 21 boys (53.8%) and 18 girls (46.2%). The age at onset ranged from one month to 16 years. Generalized seizures were observed in 23 patients (58.9%), partial seizures in 14 patients (35.8%); and generalized and partial seizures in two patients (5.1%). Seizure control was achieved in 33 patients (84.6%), and 13 patients (33.3%) were seizure-free for at least two years. Withdrawal of antiepileptic medication was successful in five of these 13 patients (38.5%), while seizures recurred in the other eight (61.5%) on withdrawal. The consanguinity rate among parents of affected children was 61.3%. Pedigree analysis suggested probable autosomal dominant (AD) inheritance with or without reduced penetrance in 13 families (41.9%), probable autosomal recessive (AR) inheritance in 6 families (19.4%), and an X-linked recessive inheritance (XR) in one family.

Conclusions: This is the first report on familial epilepsy involving first degree relatives in Jordan. Genetic testing including exome sequencing could help in reaching the accurate diagnosis and may also reveal novel autosomal recessive genes associated with pediatric idiopathic epilepsy.