Results 81 to 90 of about 537,666 (200)

Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats [PDF]

, 2020
This study aimed to examine the effects of Cacna1a mutation on the phenotype of Scn1a-associated epilepsy in rats. We used rats with an N1417H missense mutation in the Scn1a gene and others with an M251K mutation in the Cacna1a gene. Scn1a/Cacna1a double
Kobayashi, Kiyoka, Ouchida, Mamoru, Ohmori, Iori   +2 more
core   +2 more sources

Mutação no gene scn1a e suas diferentes expressões fenotípicas - comparação de dois casos

Residência Pediátrica, 2023
INTRODUCTION: Heterozygous mutations in the SCN1A gene are linked to a wide spectrum of epileptic disorders, ranging from self-limited conditions to epileptic encephalopathies, such as Dravet Syndrome.
Brenda Klemm Arci Mattos de Freitas Alves, Flávia Nardes dos Santos   +1 more
doaj   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

Electroclinical Spectrum of SCN1A Mutation Positive Dravet syndrome Patients [PDF]

, 2017
학위논문 (석사)-- 서울대학교 대학원 : 의학과 중개의학 전공, 2017. 2. 김기중.Purpose: With the widespread use of SCN1A genetic tests, electroclinical spectrum observed in patients with SCN1A mutation is expanding beyond classic Dravet syndrome.
유일한
core  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior [PDF]

Experimental Neurology, 2016
Understanding the role of SCN8A in epilepsy and behavior is critical in light of recently identified human SCN8A epilepsy mutations. We have previously demonstrated that Scn8a(med) and Scn8a(med-jo) mice carrying mutations in the Scn8a gene display increased resistance to flurothyl and kainic acid-induced seizures; however, they also exhibit ...
Christopher D. Makinson, Karoni Dutt, Frank Lin, Ligia A. Papale, Anupama Shankar, Arthur J. Barela, Robert Liu, Alan L. Goldin, Andrew Escayg   +8 more
openaire   +4 more sources

Vaccination and occurrence of seizures in SCN1A mutation-positive patients: A multicenter Italian study

, 2014
Background The relation between epileptic seizures and vaccinations is sometimes debated. In the present work, the impact of vaccination on seizure onset and clinical outcome of SCN1A mutation-positive patients is addressed.
COPPOLA, Giangennaro, Verrotti, Alberto, A. Vignoli, Petrelli, Cristina, Claudia Passamonti, Veggiotti, Pierangelo, Zamponi, Nelia, Giangennaro Coppola, P. Veggiotti, Viri, Maurizio, Vignoli, Aglaia, Passamonti, Claudia, Nelia Zamponi, Cristina Petrelli, Maurizio Viri, Capovilla, Giovanni, Alberto Verrotti, Chiara Baldassari, Giovanni Capovilla, Baldassari, Chiara, Aglaia Vignoli   +20 more
core   +2 more sources

Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures

Neurobiology of Disease, 2011
Mutations of the voltage-gated sodium (Nav) channel subunit SCN1A have been implicated in the pathogenesis of human febrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI ...
Yukihiro Ohno, Shizuka Ishihara, Tomoji Mashimo, Nobumasa Sofue, Saki Shimizu, Takuji Imaoku, Toshiko Tsurumi, Masashi Sasa, Tadao Serikawa   +8 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Genetic exploration of Dravet syndrome: two case report

Journal of Medical Case Reports
Background Dravet syndrome is an infantile-onset developmental and epileptic encephalopathy (DEE) characterized by drug resistance, intractable seizures, and developmental comorbidities.
Agung Triono, Elisabeth Siti Herini, Gunadi   +2 more
doaj   +1 more source