Motor Cortex Hyperexcitability Is Coupled to Neuromuscular Dysfunction in Aged Mice
Aged mice exhibited impaired motor behavior and neuromuscular hypoexcitability, yet cortical output to muscle was enhanced, and motor cortex layer V pyramidal neurons were hyperexcitable, with altered synaptic inputs and excitability‐related transcriptional changes.
Jose A. Viteri +11 more
wiley +1 more source
Novel Association between SCN1A Mutation and Central Sleep Apnea: A Case of Basilar-Type Migraine
We report a 37-year-old woman with recurrent episodes of excessive daytime sleepiness, bizarre behavior, social delays, and confusion lasting 3–5 days. Between episodes, she experienced only mild migraine-like headaches.
Nazanin Esmaeili +3 more
doaj +1 more source
Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy
Objective Heterozygous mutations within the voltage-gated sodium channel α subunit ( SCN1A ) are responsible for the majority of cases of Dravet syndrome (DS), a severe developmental and epileptic encephalopathy.
Metzger, Friedrich +21 more
core +1 more source
Perspectives of parents of children with Dravet syndrome indicate that extreme heat and high temperatures exacerbate epileptic seizures, introduce new seizure triggers, and require the adoption of specific seizure‑management strategies. This original article is commented by Hood on pages 1338–1339 of this issue.
Angel Aledo‐Serrano +8 more
wiley +1 more source
Resumen Objetivo Describir la experiencia de progenitores de niños y adolescentes con síndrome de Dravet en relación con el impacto de las olas de calor o las altas temperaturas ambientales en las crisis epilépticas de sus hijos, así como las estrategias de afrontamiento empleadas.
Angel Aledo‐Serrano +8 more
wiley +1 more source
Developmental progression of respiratory dysfunction in a mouse model of Dravet syndrome
Dravet syndrome (DS) is an early-onset epilepsy caused by loss-of-function mutations in the SCN1A gene, which encodes Nav1.1 channels that preferentially regulate activity of inhibitory neurons early in development. DS is associated with a high incidence
Brenda M. Milla +4 more
doaj +1 more source
cGAS-mediated type I IFN signaling contributes to disease progression in drug-refractory epilepsy. [PDF]
Huang Y +24 more
europepmc +1 more source
Age-dependent axonal dysfunctions and altered sharp-wave ripple oscillations in <i>Scn1a</i> <sup><i>+/-</i></sup> mice. [PDF]
Lascorz R, Roth FC.
europepmc +1 more source
From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort. [PDF]
Szalai R +5 more
europepmc +1 more source
A Streamlined Workflow for Purkinje Cell Labeling and High-Resolution Analyses of Dendrites and Spines in Mice. [PDF]
Tan X +9 more
europepmc +1 more source

