Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications.

Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.

Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.

Dysembryoplastic neuroepithelial tumors of childhood: Ege University experience.

Background: Dysembryoplastic neuroepithelial tumors (DNETs) are rare, low-grade tumors of the central nervous system (CNS) of childhood. It is an important cause of intractable epilepsy, and it is surgically curable. We aimed to review our institutional experience with DNET in children.

A Rare Case of Peripheral Nerve Hyperexcitability in Childhood: Isaacs Syndrome.

Isaacs syndrome is rare disorder with peripheral nerve hyperexcitability syndromes with acquired neuromyotonia in childhood. We present a 13-year-old girl with muscle stiffness and neuromyotonia diagnosed Isaac syndrome with spontaneous discharge potentials on motor unit in electromyography and the diagnosis supported by the presence of antinuclear antibodies. A successful treatment was obtained using low-dose carbamazepine.