Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Missense variants in genes encoding ion channels are associated with a spectrum of severe diseases. Variant effects on biophysical function correlate with clinical features and can be categorized as gain- or loss-of-function. This information enables a timely diagnosis, facilitates precision therapy, and guides prognosis.

Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.

Objective: Cannabidiol (CBD) is approved for treatment of Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS), and tuberous sclerosis complex (TSC). Several studies suggest antiseizure effects also beyond these three epilepsy syndromes.

Methods: In a retrospective multicenter study, we analyzed the efficacy and tolerability of CBD in patients with epilepsy at 16 epilepsy centers.

Modulating effects of FGF12 variants on Na1.2 and Na1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.

Objective: Fibroblast Growth Factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechanism of FGF12-related disorders.

Methods: Patients with pathogenic variants in FGF12 were identified through published case reports, GeneMatcher and whole exome sequencing of own case collections.

Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.

Background: Variants in genes encoding voltage-gated potassium channels are associated with a broad spectrum of neurological diseases including epilepsy, ataxia, and intellectual disability. Knowledge of the resulting functional changes, characterized as overall ion channel gain- or loss-of-function, is essential to guide clinical management including precision medicine therapies. However, for an increasing number of variants, little to no experimental data is available.

Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers.

Introduction: Genetic testing in people with epilepsy may support presurgical decision-making. It is currently unclear to what extent epilepsy centres use genetic testing in presurgical evaluation.

Methods: We performed an exploratory survey among members of the German Society for Epileptology to study the current practice of genetic testing in presurgical evaluation at the respective sites.

Seizures, semiology, and syndromes: A narrative review.

Clinical seizure signs continue to be of central importance to guide diagnosis, classification, treatment and prognosis. Some basic principles guide history-taking and observation in clinical epileptology. The information contained within subjective seizure descriptions can be framed within standardized vocabulary and a classification of ictal signs, seizure types, and the integrated framework of epilepsy syndromes.

Papillary tumor of the pineal region: a single-center experience.

Papillary tumor of the pineal region (PTPR) is a rare entity. Its clinical presentation is diverse, and establishing an accurate and timely diagnosis may be challenging. Treatment recommendations are based on the evidence level of case series.