Results 61 to 70 of about 537,666 (200)

Novel Association between SCN1A Mutation and Central Sleep Apnea: A Case of Basilar-Type Migraine

Case Reports in Clinical Practice
We report a 37-year-old woman with recurrent episodes of excessive daytime sleepiness, bizarre behavior, social delays, and confusion lasting 3–5 days. Between episodes, she experienced only mild migraine-like headaches.
Nazanin Esmaeili, Arian Hasani, Tayebeh Salehnezhad, Hamed Amirifard   +3 more
doaj   +1 more source

HGMD SCN1A mutation frequencies in patients and controls.

, 2016
HGMD SCN1A mutation frequencies in patients and controls.
Eva M. Reinthaler (455369), Albert Hofman (107303), Felicitas Becker (3175577), Patrick May (404492), Anna-Elina Lehesjoki (7931), Cornelia M. van Duijn (103685), Borislav Dejanovic (598187), Ursula Gruber-Sedlmayr (241753), Yvonne G. Weber (736210), Bernd A. Neubauer (455374), Johannes R. Lemke (3175583), Holger Lerche (455372), M. Arfan Ikram (135636), Padhraig Gormley (3175580), Thomas Sander (392644), Günter Schwarz (2211511), Wolfram S. Kunz (47700), Roland Krause (4351), Erik Riesch (3175586), Holger Thiele (455371), Birgit Neophytou (546510), Andreas Hahn (275151), Federico Zara (176248), Dennis Lal (455368), Fritz Zimprich (12362), Peter Nürnberg (11534), Maria Roberta Cilio (3175589), Andre G. Uitterlinden (89938), Hannelore Steinböck (3175592)   +28 more
core   +1 more source

Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures [PDF]

, 2013
The aim of this study was to assess the anticonvulsant effect of carbon dioxide (CO2) on Scn1a mutation-related febrile seizures. We examined physiological changes in the blood gas levels after the induction of hyperthermia-induced seizures (HISs), which
Hayashi, Keiichiro, Michiue, Hiroyuki, Wang, Haijiao, Ouchida, Mamoru, Ohmori, Iori, Inoue, Takushi, Fujita, Naohiro, Matsui, Hideki, Nishiki, Teiichi   +8 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome

EBioMedicine, 2016
Dravet syndrome is a devastating genetic brain disorder caused by heterozygous loss-of-function mutation in the voltage-gated sodium channel gene SCN1A.
J. Hsiao, T.Y. Yuan, M.S. Tsai, C.Y. Lu, Y.C. Lin, M.L. Lee, S.W. Lin, F.C. Chang, H. Liu Pimentel, C. Olive, C. Coito, G. Shen, M. Young, T. Thorne, M. Lawrence, M. Magistri, M.A. Faghihi, O. Khorkova, C. Wahlestedt   +18 more
doaj   +1 more source

Developmental changes in brain activity of heterozygous Scn1a knockout rats

Frontiers in Neurology, 2023
IntroductionDravet syndrome (DS) is an infantile-onset developmental and epileptic encephalopathy characterized by an age-dependent evolution of drug-resistant seizures and poor developmental outcomes.
Mayu Tahara, Mayu Tahara, Norimichi Higurashi, Junichi Hata, Junichi Hata, Masako Nishikawa, Ken Ito, Ken Ito, Shinichi Hirose, Takehito Kaneko, Tomoji Mashimo, Tetsushi Sakuma, Takashi Yamamoto, Hirotaka James Okano   +13 more
doaj   +1 more source

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

Stem Cell Research, 2019
Dravet syndrome (DS) is a childhood epilepsy syndrome caused by heterozygous mutations in the SCN1A gene encoding voltage-gated sodium channel Nav1.1.
Jens Schuster, Ambrin Fatima, Maria Sobol, Feria Hikmet Norradin, Loora Laan, Niklas Dahl   +5 more
doaj   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene

Stem Cell Research, 2018
De novo mutations in SCN1A are the most common cause of Dravet syndrome (DS), an infantile-onset epileptic encephalopathy. In this study, human induced pluripotent stem cell (hiPSC) line FUi002-A was generated from skin fibroblasts obtained from a ...
Yasuyoshi Tanaka, Norimichi Higurashi, Naoto Shirasu, Shin'ichiro Yasunaga, Kevin Mello Moreira, Hideyuki Okano, Shinichi Hirose   +6 more
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source