Aims: Recent estimates suggest that pediatric epilepsies are caused by chromosomal microdeletions and/or duplications in approximately 5 to 15% of patients. Here, we report the results of molecular karyotyping in 43 children with various patterns of epileptic seizures to find epilepsy-related micro-rearrangements.

Epilepsy is a common finding in patients with chromosomal macro‐ and micro‐rearrangements but only few aberrations show a constant pattern of seizures. DNA array‐based studies have reported causative copy number variations ( CNVs ) in 5–30% of patients with epilepsy with or without co‐morbidities. The interpretation of many of the detected CNVs remains challenging. In order to identify CNVs carrying epilepsy‐related genes we investigated 43 children with various patterns of epileptic seizures, intellectual disability (ID), and minor dysmorphism, using the Illumina® Infinium Human1M‐DuoV1 array. In three patients we found likely causative de novo CNVs , i.e. deletions in 1q41q42.12 (3.4 Mb) and 19p13.2 (834 kb), and a mosaic two‐segment duplication in 17p13.2 (218 kb) and 17p13.1 (422 kb). In six additional patients there were aberrations (a deletion in one and duplications in five patients) with uncertain clinical consequences. In total, the finding of causative chromosomal micro‐rearrangements in 3 out of 43 patients (7%) and potentially causative CNVs in 6 additional patients (14%) with epilepsy and ID but without major malformations confirms the power of DNA arrays for the detection of new disease‐related genetic regions.

Introduction: Bromide is the oldest antiepileptic drug acting by increasing GABA induced cerebral inhibition. It is licensed for primary or secondary generalized tonic-clonic seizures and is especially useful for infantile idiopathic generalized epilepsy syndromes. Favored drug combination is with valproic acid. Usual side effects are dose related drowsiness and provoked seizures by sudden reduction. Chronic side effect is bromism with mainly dermatological problems.