Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Background: Pathogenic variants in DYNC1H1, which encodes the cytoplasmic dynein 1 heavy chain 1, have been linked to a wide range of neurological syndromes.

Methods: We analyzed clinical data, video-electroencephalography, neuroimaging features, and genetic results in four patients with pathogenic variants in this gene.

Results: A comprehensive description of distinct neuroimaging and neurophysiological hallmarks that can aid in the recognition of these conditions is provided.

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.

Objective: The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).

Patients And Methods: Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history.

[Neonatal seizures and progression to epilepsy in a tertiary hospital].

Introduction: Given the immaturity of the newborn, neonatal seizures are a diagnostic challenge. Most of them are secondary to an acute event. A small percentage constitute the onset of epilepsy.

Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases.

Introduction: Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications.

Case Report: We report three cases of children between 5 and 9 years old, with epilepsy and previous normal brain magnetic resonance imaging, who were taking the drug at correct doses. Pseudoatrophy manifests subacutely with symptoms and images of cerebral and/or cerebellar atrophy, reversible after drug withdrawal.