Results 21 to 30 of about 8,423 (186)

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.

PLoS Genetics, 2021
Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease ...
Yuliya Voskobiynyk, Gopal Battu, Stephanie A Felker, J Nicholas Cochran, Megan P Newton, Laura J Lambert, Robert A Kesterson, Richard M Myers, Gregory M Cooper, Erik D Roberson, Gregory S Barsh   +10 more
doaj   +1 more source

Genetics of Febrile Seizures and Epilepsy (GEFS+)

Pediatric Neurology Briefs, 2008
Mutations in 3 genes SCN1A, SCN1B and GABRG2 have been shown to cause GEFS+ in families of various ethnic origins.
J Gordon Millichap
doaj   +1 more source

SCN1A: bioinformatically-informed revised boundaries for promoter and enhancer regions [PDF]

, 2023
Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome (DS), febrile seizures (FS), and genetic epilepsy with febrile seizures plus (GEFS ...
Frankish, Adam, Mills, James D, Pagni, Susanna, Mudge, Jonathan M, Sisodiya, Sanjay M, Custodio, Helena Martins   +5 more
core   +1 more source

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? [PDF]

, 2020
Variants in the gene SCN1A are a common genetic cause for a wide range of epilepsy phenotypes ranging from febrile seizures to Dravet syndrome. Focal onset seizures and structural lesions can be present in these patients and the question arises whether ...
Strobl, K, Epilepsy Surgery in SCN1A Study Group, Sisodiya, SM, Harvey, AS, Varadkar, S, Bast, T, Hirsch, E, Cross, JH, Scheffer, IE, Vezyroglou, A   +9 more
core   +2 more sources

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

Neurobiology of Disease, 2014
Heterozygous loss-of-function SCN1A mutations cause Dravet syndrome, an epileptic encephalopathy of infancy that exhibits variable clinical severity. We utilized a heterozygous Scn1a knockout (Scn1a+/−) mouse model of Dravet syndrome to investigate the ...
Akshitkumar M. Mistry, Christopher H. Thompson, Alison R. Miller, Carlos G. Vanoye, Alfred L. George, Jr., Jennifer A. Kearney   +5 more
doaj   +1 more source

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

Genome Medicine, 2021
Background Genes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic regulatory elements. SCN1A, which encodes the NaV1.1 sodium channel alpha subunit, is one
Jessica L. Haigh, Anna Adhikari, Nycole A. Copping, Tyler Stradleigh, A. Ayanna Wade, Rinaldo Catta-Preta, Linda Su-Feher, Iva Zdilar, Sarah Morse, Timothy A. Fenton, Anh Nguyen, Diana Quintero, Samrawit Agezew, Michael Sramek, Ellie J. Kreun, Jasmine Carter, Andrea Gompers, Jason T. Lambert, Cesar P. Canales, Len A. Pennacchio, Axel Visel, Diane E. Dickel, Jill L. Silverman, Alex S. Nord   +23 more
doaj   +1 more source

VIP interneuron impairment promotes in vivo circuit dysfunction and autism-related behaviors in Dravet syndrome

Cell Reports, 2023
Summary: Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by loss-of-function variants in SCN1A, which encodes the voltage-gated sodium channel subunit Nav1.1.
Kevin M. Goff, Sophie R. Liebergall, Evan Jiang, Ala Somarowthu, Ethan M. Goldberg   +4 more
doaj   +1 more source

Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a +/− mouse model of Dravet syndrome

Scientific Reports, 2021
Dravet syndrome (DS) is an intractable form of childhood epilepsy that occurs in infancy. More than 80% of all patients have a heterozygous abnormality in the SCN1A gene, which encodes a subunit of Na+ channels in the brain.
Kouya Uchino, Hiroyuki Kawano, Yasuyoshi Tanaka, Yuna Adaniya, Ai Asahara, Masanobu Deshimaru, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Katsunori Iwasaki, Shinichi Hirose   +10 more
doaj   +1 more source

CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice

Neurobiology of Disease, 2020
Dravet syndrome is a severe infantile-onset epileptic encephalopathy which begins with febrile seizures and is caused by heterozygous loss-of-function mutations of the voltage-gated sodium channel gene SCN1A.
Tetsushi Yamagata, Matthieu Raveau, Kenta Kobayashi, Hiroyuki Miyamoto, Tetsuya Tatsukawa, Ikuo Ogiwara, Shigeyoshi Itohara, Takao K. Hensch, Kazuhiro Yamakawa   +8 more
doaj   +1 more source

The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function

Frontiers in Pharmacology, 2021
Variants of the SCN1A gene encoding the neuronal voltage-gated sodium channel NaV1.1 cause over 85% of all cases of Dravet syndrome, a severe and often pharmacoresistent epileptic encephalopathy with mostly infantile onset.
Laura B. Jones, Colin H. Peters, Richard E. Rosch, Richard E. Rosch, Maxine Owers, Elaine Hughes, Elaine Hughes, Deb K. Pal, Deb K. Pal, Peter C. Ruben   +9 more
doaj   +1 more source