Results 121 to 130 of about 537,666 (200)

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L

, 2017
Background Familial hemiplegic migraine type 3 is a monogenic subtype of migraine caused by missense mutations in the neuronal voltage-gated sodium channel gene SCN1A, with 10 different mutations reported so far.
Eva Auffenberg, Victoria Schubert, Tobias Freilinger, Saskia Biskup, Karin Jurkat-Rott   +4 more
core   +1 more source

Generation of iPSC line (FMCPGHi003-A) from human PBMCs of a patient with Familial hemiplegic migraine type 3

Stem Cell Research
Peripheral blood mononuclear cells (PBMCs) were obtained from a patient diagnosed with Familial Hemiplegic Migraine Type 3, who carried a heterozygous A > C mutation in the SCN1A gene and reprogrammed using CytoTuneTM-iPS 2.0 Sendai Reprogramming Kit ...
Tao Wang, Yanan Li, Chunxiao Yang, Huijuan Yuan, Weinan Na, Shengyuan Yu   +5 more
doaj   +1 more source

Genotype-phenotype associations in SCN1A-related epilepsies

, 2011
Objective: Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome.
Duncan, J., Zuberi, S., R. Birch, A. Brunklaus, Birch, R., G. H. Forbes, Reavey, E., Forbes, G.H., E. Reavey, Brunklaus, A., S. M. Zuberi, J. Duncan   +11 more
core   +1 more source

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

, 2010
SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+).
Mulley, J., John Mulley, Assen Jablensky, Melania Radionova, Dimova, P., Sander, J., Scheffer, I., Florez, L., Ivailo Tournev, Azmanov, D., Luba Kalaydjieva, Jablensky, A., Shelagh J. Smith, Dimitar N. Azmanov, Bojinova, V., Tournev, I., Smith, S., Laura Florez, Kalaydjieva, L., Petya S. Dimova, Ingrid Scheffer, Sashka Zhelyazkova, Zhelyazkova, S., Radionova, M., Josemir W. Sander, Veneta Bojinova   +25 more
core   +1 more source

Deep learning-based, fully automated, pediatric brain segmentation

Scientific Reports
The purpose of this study was to demonstrate the performance of a fully automated, deep learning-based brain segmentation (DLS) method in healthy controls and in patients with neurodevelopmental disorders, SCN1A mutation, under eleven.
Min-Jee Kim, EunPyeong Hong, Mi-Sun Yum, Yun-Jeong Lee, Jinyoung Kim, Tae-Sung Ko   +5 more
doaj   +1 more source

Dravet Syndrome and SCN1A gene mutations: a review [PDF]

Journal of Neurology & Stroke, 2020
Letícia Ferreira Marques da Silva, Gabriela Siqueira Turolla, Manoela Marques Orteg, Paulo Henrique Pires de Aguiar   +3 more
openaire   +1 more source

Rasmussen encephalitis associated with SCN1A mutation

Rasmussen encephalitis associated with SCN1A mutation
Mutations in the SCN 1 A gene, encoding the neuronal voltage-gated sodium channel alpha1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN 1 A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN 1 A and then heterologously expressed in HEK293 cells ...
openaire   +1 more source

Deciphering the Complexities of Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) Mutation: A Case of Intractable Epilepsy in a Five-and-a-Half-Month-Old Male. [PDF]

Cureus
Jadhav I, Vagha K, Varma A, Vagha JD, Lath YV, Jadhav J.   +5 more
europepmc   +1 more source

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. [PDF]

Cephalalgia, 2016
Fan C, Wolking S, Lehmann-Horn F, Hedrich UB, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K.   +8 more
europepmc   +1 more source

Rewriting SCN1A: Genome Editing for Genetic Epilepsies. [PDF]

Epilepsy Curr
Dow SA, Bedrosian TA.
europepmc   +1 more source