Cognitive impairment in people with epilepsy
A Novak, K Vizjak, M Rakusa - Journal of Clinical Medicine, 2022 - mdpi.com
People with epilepsy frequently have cognitive impairment. The majority of cognitive
problems is influenced by a variety of interlinked factors, including the early onset of …
problems is influenced by a variety of interlinked factors, including the early onset of …
Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson's disease patients
Several mutations that cause Parkinson's disease (PD) have been identified over the past
decade. These account for 15–25% of PD cases; the rest of the cases are considered …
decade. These account for 15–25% of PD cases; the rest of the cases are considered …
IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission
B Brant, T Stern, HA Shekhidem, L Mizrahi, I Rosh… - Molecular …, 2021 - nature.com
Mutations in the IQSEC2 gene are associated with drug-resistant, multifocal infantile and
childhood epilepsy; autism; and severe intellectual disability (ID). We used induced …
childhood epilepsy; autism; and severe intellectual disability (ID). We used induced …
Severe deficiency of the voltage-gated sodium channel NaV1. 2 elevates neuronal excitability in adult mice
Scn2a encodes the voltage-gated sodium channel Na V 1.2, a main mediator of neuronal
action potential firing. The current paradigm suggests that Na V 1.2 gain-of-function variants …
action potential firing. The current paradigm suggests that Na V 1.2 gain-of-function variants …
Hyperexcitability and pharmacological responsiveness of cortical neurons derived from human iPSCs carrying epilepsy-associated sodium channel Nav1. 2-L1342P …
With the wide adoption of genomic sequencing in children having seizures, an increasing
number of SCN2A genetic variants have been revealed as genetic causes of epilepsy …
number of SCN2A genetic variants have been revealed as genetic causes of epilepsy …
Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention
VK Gribkoff, RJ Winquist - Biochemical Pharmacology, 2023 - Elsevier
A number of mutations to members of several CNS potassium (K) channel families have
been identified which result in rare forms of neonatal onset epilepsy, or syndromes of which …
been identified which result in rare forms of neonatal onset epilepsy, or syndromes of which …
Multielectrode arrays for functional phenoty** of neurons from induced pluripotent stem cell models of neurodevelopmental disorders
Simple Summary Multielectrode array technology allows researchers to record the
spontaneous firing activity of cultured neurons over a period of multiple weeks or months …
spontaneous firing activity of cultured neurons over a period of multiple weeks or months …
Genome editing in iPSC-based neural systems: from disease models to future therapeutic strategies
Therapeutic advances for neurological disorders are challenging due to limited accessibility
of the human central nervous system and incomplete understanding of disease …
of the human central nervous system and incomplete understanding of disease …
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations
Abstract Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-
motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of …
motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of …