Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

Background: Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (, , , , ) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports.

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.

Citric acid cycle deficiencies are extremely rare due to their central role in energy metabolism. The gene encodes the mitochondrial isoform of aconitase (aconitase 2), the second enzyme of the citric acid cycle. Approximately 100 patients with aconitase 2 deficiency have been reported with a variety of symptoms, including intellectual disability, hypotonia, optic nerve atrophy, cortical atrophy, cerebellar atrophy, and seizures.

Music Therapy Supports Children with Neurological Diseases during Physical Therapy Interventions.

Recent research found evidence supporting music therapy for children with neurological diseases during their hospitalized neurological early rehabilitation to promote their development during physical therapy. We hypothesized that live music therapy might improve vital signs during a physical therapy session. Seventeen children received live music therapy during the physical therapy session twice a week.

A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.

SCN2A (sodium channel 2A) encodes the Nav1.2 channel protein in excitatory neurons in the brain. Nav1.