This chapter reviews our current understanding of the genetic and functional changes in potassium channels that may lead to epilepsy, within the framework of features of the excitable neuronal …

Jan 11, 2019 · Researchers have mapped out a newly discovered serious disease which causes children to suffer epileptic seizures, loss of magnesium in urine and reduced intelligence.

Apr 1, 2024 · This study aimed to summarize the epilepsy phenotypes, functional studies, and pharmacological advances associated with different potassium channel gene variants to assist …

Pathogenic variants (“mutations”) in the KCNC1 gene cause a spectrum of neurological conditions, including a form of progressive myoclonus epilepsy called myoclonic epilepsy and ataxia due to …

Jul 1, 2018 · Potassium channels dysfunction and altered genes encoding for molecules involved in potassium homeostasis have been associated with human epilepsy. These observations are in …

This review attempts to give a concise and up-to-date overview on the role of potassium channels in epilepsies. Their role can be defined from a genetic perspective, focusing on variants and de novo …

Nov 25, 2021 · Seizures typically began in the neonatal period or in early childhood and were generally severe in nature. Ten children, 5 of them infants, presented with refractory status epilepticus.

Jan 13, 2019 · Two children from Europe and a child from Canada suffer from a previously unknown disease that causes epileptic seizures, loss of magnesium in urine and reduced intelligence at the …

Feb 1, 2023 · 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 one …

May 1, 2024 · This chapter reviews our current understanding of the genetic and functional changes in potassium channels that may lead to epilepsy, within the framework of features of the excitable …