Results 21 to 30 of about 537,666 (200)

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes [PDF]

, 2023
Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of patients with Dravet syndrome have a mutation in SCN1A, encoding Nav1.1.
Lewerissa, Elly I, Schelhaas, Helenius J, Verhoeven, Judith, Parodi, Giulia, Puvogel, Sofia, Lewerissa, Elly I., Schubert, Dirk, Van Bokhoven, Hans, van Hugte, Eline J H, Nadif Kasri, Nael, Scheefhals, Nicky, van Voorst, Torben W, Van Hugte, Eline J.H., Kogo, Naoki, Frega, Monica, Keller, Jason M, Van Voorst, Torben W., Wu, Ka Man, Schelhaas, Helenius J., Keller, Jason M., Majoie, Marian   +20 more
core   +1 more source

Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan

Pediatrics and Neonatology, 2021
Background: Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations.
Yi-Hsuan Liu, Yi-Ting Cheng, Meng-Han Tsai, I-Jun Chou, Po-Cheng Hung, Meng-Ying Hsieh, Yi-Shan Wang, Yun-Ju Chen, Cheng-Yen Kuo, Jainn-Jim Lin, Huei-Shyong Wang, Kuang-Lin Lin   +11 more
doaj   +1 more source

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes [PDF]

Journal of Medical Genetics, 2020
Background Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system.
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki   +11 more
openaire   +2 more sources

Clinical spectrum of SCN1A mutations [PDF]

Epilepsia, 2009
SummaryMutations in the NaV1.1 neuronal sodium channel alpha‐subunit (SCN1A) gene have been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS+) to severe myoclonic epilepsy in infancy (SMEI), and rare cases of familial migraine.
Gambardella, Antonio, Marini, Carla
openaire   +2 more sources

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model

Cells, 2023
Dravet syndrome (DRVT) is a rare form of neurodevelopmental disorder with a high risk of sudden unexpected death in epilepsy (SUDEP), caused mainly (>80% cases) by mutations in the SCN1A gene, coding the Nav1.1 protein (alfa-subunit of voltage-sensitive ...
Valery Zayat, Zuzanna Kuczynska, Michal Liput, Erkan Metin, Sylwia Rzonca-Niewczas, Marta Smyk, Tomasz Mazurczak, Alicja Goszczanska-Ciuchta, Pawel Leszczynski, Dorota Hoffman-Zacharska, Leonora Buzanska   +10 more
doaj   +1 more source

Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome

Frontiers in Cellular Neuroscience, 2023
Dravet syndrome (Dravet) is a severe congenital developmental genetic epilepsy caused by de novo mutations in the SCN1A gene. Nonsense mutations are found in ∼20% of the patients, and the R613X mutation was identified in multiple patients.
Anat Mavashov, Anat Mavashov, Marina Brusel, Marina Brusel, Jiaxing Liu, Victoria Woytowicz, Haneui Bae, Ying-Hsin Chen, Vardhan S. Dani, Elena Cardenal-Muñoz, Vittoria Spinosa, José Ángel Aibar, Moran Rubinstein, Moran Rubinstein, Moran Rubinstein   +14 more
doaj   +1 more source

Lack of SCN1A Mutations in Familial Febrile Seizures [PDF]

Epilepsia, 2002
Summary:  Purpose: Mutations in the voltage‐gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy.
Malacarne M., Madia F., Gennaro E., Vacca D., Guney A. I., Buono S., Bernardina B. D., Gaggero R., Gobbi G., Lispi M. L., Malamaci D., Melideo G., Roccella M., Sferro C., Tiberti A., Vanadia F., Vigevano F., Viri F., Vitali M. R., Bricarelli F. D., Bianchi A., Zara F.   +21 more
openaire   +4 more sources

A Mutation in the SCN1A Gene With a Peculiar Course: A Case Report [PDF]

Cureus, 2021
In this report, we present the case of a one-year-old female patient with a history of febrile seizures, which was characterized by multiple seizures during hot baths and more than one episode of status epilepticus. Dravet syndrome was suspected due to the clinical context of the seizures and was confirmed by genetic testing. The brain MRI was found to
Sur, Lucia, Samasca, Gabriel, Sur, Genel, Gaga, Remus, Aldea, Cornel   +4 more
openaire   +2 more sources

Mutations of the SCN1A gene in acute encephalopathy [PDF]

Epilepsia, 2012
SummaryPurpose:  Acute encephalopathy is the most serious complication of pediatric viral infections, such as influenza and exanthema subitum. It occurs worldwide, but is most prevalent in East Asia. Recently, there have been sporadic case reports of epilepsy/febrile seizure and acute encephalopathy with a neuronal sodium channel alpha 1 subunit (SCN1A)
Makiko, Saitoh, Mayu, Shinohara, Hideki, Hoshino, Masaya, Kubota, Kaoru, Amemiya, Jun-Lchi, Takanashi, Su-Kyeong, Hwang, Shinichi, Hirose, Masashi, Mizuguchi   +8 more
openaire   +3 more sources

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

Neurobiology of Disease, 2009
Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI).
Bin Tang, Karoni Dutt, Ligia Papale, Raffaella Rusconi, Anupama Shankar, Jessica Hunter, Sergio Tufik, Frank H. Yu, William A. Catterall, Massimo Mantegazza, Alan L. Goldin, Andrew Escayg   +11 more
doaj   +1 more source