VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial.

Introduction: Lafora disease (LD) is an ultrarare fatal progressive myoclonic epilepsy, causing drug-resistant epilepsy, myoclonus and psychomotor deterioration. LD is caused by mutations in EPM2A or NHLRC1, which lead to the accumulation of polyglucosans in the brain and neurodegeneration. There are no approved treatments for LD.

Efficacy and Safety of Pulse Intravenous Methylprednisolone in Pediatric Epileptic Encephalopathies: Timing and Networks Consideration.

Epileptic encephalopathies (EE) are characterized by severe drug-resistant seizures, early onset, and unfavorable developmental outcomes. This article discusses the use of intravenous methylprednisolone (IVMP) pulse therapy in pediatric patients with EE to evaluate its efficacy and tolerability. This is a retrospective study from 2020 to 2023.

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.

Objective: This review article focuses on clinical and genetic features of paroxysmal neurological disorders featuring episodic ataxia (EA) and epilepsy and help clinicians recognize, diagnose, and treat patients with co-existing EA and epilepsy. It also provides an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.

Methods: Based on a literature review on Pubmed database, a list of genes linked to paroxysmal neurological disorders featuring EA and epilepsy were compiled.

Acute lymphoblastic leukemia in a child with Weiss-Kruszka syndrome: Casual or causal association?

Weiss-Kruszka syndrome is a recently described genetic disorder characterized by craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. It is caused by heterozygous loss-of-function variantsin ZNF462 gene. During the time, the original phenotype was expanded, including several complications, sensorineural hearing loss, congenital hypogonadotropic hypogonadism with anosmia and complete growth hormone deficiency associated with empty sella syndrome.