Results 71 to 80 of about 537,666 (200)

Characteristic spatial and frequency distribution of mutations in SCN1A

Acta Epileptologica
Abstract Background SCN1A is the most well-recognized and commonly mutated gene related to epilepsy. This study analyzed the characteristic spatial and frequency distributions of SCN1A mutations, aiming to provide important insight into the mutagenesis etiopathology of SCN1A-associated epilepsy.
Mengwen Zhang, Jing Guo, Bin Li, Kang Liu, Jiayuan Zhao, Jiayuan Zhang, Xuqing Lin, Bin Tang, Jie Wang, Weiping Liao, Na He   +10 more
openaire   +2 more sources

Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment

Neurobiology of Disease, 2013
Dravet syndrome is an intractable epileptic encephalopathy characterized by early onset epileptic seizures followed by cognitive decline, hyperactivity, autistic behaviors and ataxia.
Susumu Ito, Ikuo Ogiwara, Kazuyuki Yamada, Hiroyuki Miyamoto, Takao K. Hensch, Makiko Osawa, Kazuhiro Yamakawa   +6 more
doaj   +1 more source

Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity

Biomedicines, 2022
Mutations in SCN1A gene, encoding the voltage-gated sodium channel (VGSC) NaV1.1, are widely recognized as a leading cause of genetic febrile seizures (FS), due to the decrease in the Na+ current density, mainly affecting the inhibitory neuronal ...
Stefania Scalise, Clara Zannino, Valeria Lucchino, Michela Lo Conte, Luana Scaramuzzino, Pierangelo Cifelli, Tiziano D’Andrea, Katiuscia Martinello, Sergio Fucile, Eleonora Palma, Antonio Gambardella, Gabriele Ruffolo, Giovanni Cuda, Elvira Immacolata Parrotta   +13 more
doaj   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development

Epilepsia, EarlyView.
Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations [PDF]

Case Reports in Medicine, 2019
Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events. We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene.
Alame, Saada, El-Houwayek, Eliane, Nava, Caroline, Sabbagh, Sandra, Fawaz, Ali, Gillart, Anne-Celine, Hasbini, Dana, Depienne, Christel, Mégarbané, André   +8 more
openaire   +3 more sources

Introducing the D‐DAND scale: Development of a comprehensive caregiver‐administered tool for Dravet syndrome comorbidities

Epilepsia, EarlyView.
Graphical overview of the Dravet Disease–Associated Neuropsychiatric Disorders (D‐DAND) scale. The D‐DAND scale provides a caregiver‐based, comprehensive assessment of developmental and behavioral comorbidities in Dravet syndrome across six domains: motor abilities, language and social interaction, autonomies, academic skills, emotional/behavioral ...
Bernardo Dalla Bernardina, Francesca Offredi, Alessio Toraldo, Lisa Ouss, Delphine Breuillard, Mathilde Cozzo, Tommaso Lo Barco, Isabella Brambilla, Francesca Darra, Rima Nabbout   +9 more
wiley   +1 more source

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 more
wiley   +1 more source

Data on mutations and Clinical features in SCN1A or SCN2A gene

Data in Brief, 2019
Mutations in SCN1A and SCN2A are associated with a wide spectrum of epilepsy related disorders in human. This dataset presented variants and clinical features of SCN1A and SCN2A genes. A total of 48 cases were presented, including 33 SCN1A mutations and 14 SCN2A mutations. While 22 mutations were novel in SCN1A and 11 were novel in SCN2A.
Yanting Kong, Kai Yan, Liyuan Hu, Mingbang Wang, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, Lin Yang, Wenhao Zhou   +9 more
openaire   +3 more sources

Milder phenotype with SCN1A truncation mutation other than SMEI [PDF]

Seizure, 2010
Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients. In this research we first identified two novel de novo truncation mutations (S662X and M145fx148) in two patients whose phenotypes were quite milder compared with SMEI patients.
Yu, Mei-Juan, Shi, Yi-Wu, Gao, Mei-Mei, Deng, Wei-Yi, Liu, Xiao-Rong, Chen, Li, Long, Yue-Sheng, Yi, Yong-Hong, Liao, Wei-Ping   +8 more
openaire   +2 more sources