Results 161 to 170 of about 537,666 (200)

From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy. [PDF]

Clin Genet
Ye S, Chen P.
europepmc   +1 more source

Functional and pharmacological characterization of the <i>SCN2A</i> variant p.C258R with mixed gain and loss of function causing developmental and epileptic encephalopathy type 11. [PDF]

Epilepsy Behav Rep
Köppel A, de Vries H, Jamili M, Stanke C, Brandl U, Leipold E, Heinemann SH.   +6 more
europepmc   +1 more source

Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes. [PDF]

J Neurol
Maher BH, Maksemous N, Sutherland HG, Smith RA, Dabash O, Greenhow A, Nasralla FA, Nyholt DR, van den Maagdenberg AMJM, Lea RA, Griffiths LR.   +10 more
europepmc   +1 more source

Flip of the Switch: Targeting GABA Dysregulation to Treat Nonseizure Comorbidities in Dravet Syndrome. [PDF]

Epilepsy Curr
Sherer M, Goldberg EM.
europepmc   +1 more source

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy [PDF]

Seizure: the Journal of the British Epilepsy Association, 2020
The vast majority of mutations responsible for epilepsy syndromes such as genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS) occur in the gene encoding the type 1 alpha subunit of neuronal voltage-gated sodium channel (SCN1A).63 individuals presenting with either DS or GEFS + syndrome phenotype were screened for SCN1A gene ...
Judit Bene, András Szabó, Béla Melegh
exaly   +6 more sources

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A [PDF]

Seizure: the Journal of the British Epilepsy Association, 2009
To describe the spectrum of clinical disease in a mutliplex family with an autosomal dominant form of generalized epilepsy with febrile seizures plus (GEFS+) and determine its genetic etiology.Medical and family history was obtained on 11 clinically affected individuals and their relatives across three generations through medical chart review and home ...
Patrick S Parfrey, Nancy D Merner, Terry-Lynn Young   +2 more
exaly   +5 more sources

Mesial Temporal Sclerosis in a Cohort of Children With SCN1A Gene Mutation

Journal of Child Neurology, 2012
Mesial temporal sclerosis is uncommon in childhood but has been associated with febrile status epilepticus. SCN1A gene mutations are linked to multiple epilepsy syndromes with patients frequently presenting with prolonged febrile seizures.
Zoltan Patay
exaly   +2 more sources

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SCN1Amutations and epilepsy

Human Mutation, 2005
SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. The 26 exons of SCN1A are spread over 100 kb of genomic DNA. Genetic defects in the coding sequence lead to generalized epilepsy with febrile seizures plus (GEFS+) and a range of childhood epileptic encephalopathies of
Mulley, J., Scheffer, I., Petrou, S., Dibbens, L., Berkovic, S., Harkin, L.   +5 more
openaire   +3 more sources

SCN1A MUTATION ASSOCIATED WITH ATYPICAL PANAYIOTOPOULOS SYNDROME

Neurology, 2007
Mutations identified in SCN1A , the gene encoding the neuronal sodium channel α1 subunit, have been linked with a disorder called generalized epilepsy with febrile seizures plus (GEFS+).1 GEFS+ can also be linked to mutations in SCN2A, SCN1B, and GABRG2 genes.2 Inherited mutations, commonly missense, account for 5% to 15% of GEFS+.1 Sporadic missense ...
Grosso, S., Orrico, A., Galli, L., Di Bartolo, R. M., Sorrentino, V., Balestri, P.   +5 more
openaire   +4 more sources