Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.

Objective: Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.-11C>T change upstream of the gene's normal ATG initiation codon of ANKH in a family of southern Italian descent; we correlate the phenotype with known epilepsy syndromes and provide the first evidence of recurrence of this particular ANKH variant.

The role of DTI in surgical management of brainstem cavernous malformations: A meta-analysis of 4159 cases.

Background: Brainstem cavernous malformations (BSCMs) are challenging neurosurgical entities due to their critical location. Advanced imaging techniques like diffusion tensor imaging (DTI) have emerged as potential tools for improving surgical outcomes.

Purpose: To compare the efficacy and outcomes of diffusion tensor imaging (DTI) versus conventional magnetic resonance imaging (MRI) or computed tomography (CT) in the surgical management of brainstem cavernous malformations (BSCM).

Epidemiology of WHO grade 2 and grade 3 gliomas from 2009 to 2021 in Germany.

Purpose: This study provides a comprehensive analysis of the real-world epidemiology of histologically assessed IDH-mutated or IDH-wildtype grade II and III gliomas in Germany between 2009 and 2021, supplemented with a literature-based approach of setting the data in the context of the WHO 2021 classification.

Methods: Data from the Centre for Cancer Registry Data (ZfKD) at the Robert Koch-Institute (RKI) was utilized, encompassing all incident cases of histologically (according to the WHO classification of the respective time) newly diagnosed grade II and III gliomas diagnosed between 2009 and 2021, representing a subgroup of the total number of 14,053 glioma cases (including high grade glioma). Data were supplemented with an exploratory literature review on IDH-mutation rates and epidemiology data from the German low-grade glioma (LoG-Glio) disease registry.

ASIC1a-Dependent Potentiation of Acid-Sensing Ion Channel Currents by Cyanide.

Cyanide (CN) is a potent, fast-acting toxicant that impacts endogenous biomolecules in the nervous system, including acid-sensing ion channels (ASICs), which play a vital role in various neurological and psychological conditions. Here, we demonstrate that CN rapidly potentiates ASIC currents in cultured mouse cortical neurons in a dose-dependent manner while causing a leftward shift in the pH dose-response curve. Notably, this potentiation was unaffected by a 30-min CN treatment or the presence of ATP in the recording pipette.