Sodium channel SCN1A and epilepsy: Mutations and mechanisms
Mutations in a number of genes encoding voltage‐gated sodium channels cause a variety of
epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile …
epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile …
Sodium channel mutations in epilepsy and other neurological disorders
MH Meisler, JA Kearney - The Journal of clinical …, 2005 - Am Soc Clin Investig
Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years
ago, more than 150 mutations have been described in patients with epilepsy. Many are …
ago, more than 150 mutations have been described in patients with epilepsy. Many are …
SCN1A mutations and epilepsy
SCN1A is part of the SCN1A‐SCN2A‐SCN3A gene cluster on chromosome 2q24 that
encodes for α pore forming subunits of sodium channels. The 26 exons of SCN1A are …
encodes for α pore forming subunits of sodium channels. The 26 exons of SCN1A are …
Sodium channel inactivation: molecular determinants and modulation
W Ulbricht - Physiological reviews, 2005 - journals.physiology.org
Voltage-gated sodium channels open (activate) when the membrane is depolarized and
close on repolarization (deactivate) but also on continuing depolarization by a process …
close on repolarization (deactivate) but also on continuing depolarization by a process …
Molecular basis of an inherited epilepsy
C Lossin, DW Wang, TH Rhodes, CG Vanoye… - Neuron, 2002 - cell.com
Epilepsy is a common neurological condition that reflects neuronal hyperexcitability arising
from largely unknown cellular and molecular mechanisms. In generalized epilepsy with …
from largely unknown cellular and molecular mechanisms. In generalized epilepsy with …
Mechanisms of sodium channel inactivation
AL Goldin - Current opinion in neurobiology, 2003 - Elsevier
Rapid inactivation of sodium channels is crucial for the normal electrical activity of excitable
cells. There are many different types of inactivation, including fast, slow and ultra-slow, and …
cells. There are many different types of inactivation, including fast, slow and ultra-slow, and …
Altered function of the SCN1A voltage-gated sodium channel leads to γ-aminobutyric acid-ergic (GABAergic) interneuron abnormalities
Voltage-gated sodium channels are required for the initiation and propagation of action
potentials. Mutations in the neuronal voltage-gated sodium channel SCN1A are associated …
potentials. Mutations in the neuronal voltage-gated sodium channel SCN1A are associated …
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
SF Berkovic, L Harkin, JM McMahon… - The Lancet …, 2006 - thelancet.com
Background Vaccination, particularly for pertussis, has been implicated as a direct cause of
an encephalopathy with refractory seizures and intellectual impairment. We postulated that …
an encephalopathy with refractory seizures and intellectual impairment. We postulated that …
Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol
Mutations in brain isoforms of voltage-gated sodium channels have been identified in
patients with distinct epileptic phenotypes. Clinically, these patients often do not respond …
patients with distinct epileptic phenotypes. Clinically, these patients often do not respond …
Fever, genes, and epilepsy
About 13% of patients with epilepsy have a history of febrile seizures (FS). Studies of familial
forms suggest a genetic component to the epidemiological link. Indeed, in certain …
forms suggest a genetic component to the epidemiological link. Indeed, in certain …