Results 51 to 60 of about 8,423 (186)

Microdeletions involving the **SCN1A** gene may be common in **SCN1A**-mutation-negative SMEI patients

, 2006
Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal voltage-gated sodium-channel alpha-subunit gene (SCN1A) have been identified. The
Smouts, Iris, Scheers, Stefaan, Ceulemans, Berten, Van Dyck, Tine, Beeckmans, Sabine, Del-Favero, Jurgen, Goossens, Dirk, Audenaert, Dominique, Claeys, Kristl G., Lagae, Lieven, Misson, Jean-Paul, van Luijk, Rob, Suls, Arvid, Claes, Lieve R.F., Barisic, Nina, Wauters, Jan, De Jonghe, Peter, Claes, Godelieve, Claeys, Kristl, Buyse, Gunnar, Harding, Boris, Deprez, Liesbet, Goossens, D.   +22 more
core   +1 more source

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

Advancements in Dravet Syndrome Therapeutics: A Comprehensive Look at Present and Future Treatment Horizons: A Focused Review

Annals of Indian Academy of Neurology
Dravet syndrome (DS) is a developmental epileptic encephalopathy, characterized by fever-triggered focal or hemiclonic seizures at onset with various associated comorbidities like intellectual disability, gait abnormalities, and behavioral issues.
Aakash Mahesan, Gautam Kamila, Sheffali Gulati   +2 more
doaj   +1 more source

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

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

Donepezil increases resistance to induced seizures in a mouse model of Dravet syndrome

Annals of Clinical and Translational Neurology, 2019
De novo loss‐of‐function mutations in SCN1A are the main cause of Dravet syndrome, a catastrophic encephalopathy characterized by recurrent early‐life febrile seizures, a number of other afebrile seizure types that are often refractory to treatment, and ...
Jennifer C. Wong, Jacquelyn T. Thelin, Andrew Escayg   +2 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

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

Prolonged fenfluramine use in open‐label studies of Dravet or Lennox–Gastaut syndromes: Long‐term safety, tolerability, patient global functioning, and considerations for interpreting effectiveness

Epilepsia, EarlyView.
This graphical abstract provides an overview of the content from this open‐label extension study of fenfluramine use in patients with Dravet syndrome or Lennox‐Gastaut syndrome. Abstract Objective Long‐term safety and global functioning are reported in patients with Dravet syndrome (DS) or Lennox–Gastaut syndrome (LGS) treated with fenfluramine in an ...
Antonio Gil‐Nagel, Kelly G. Knupp, Boudewijn Gunning, Domenica Immacolata Battaglia, Elizabeth A. Thiele, Ingrid E. Scheffer, An‐Sofie Schoonjans, Rima Nabbout, Nathalie Villeneuve, Kerstin Alexandra Klotz, Nicola Specchio, Rocio Sanchez‐Carpintero, Marta Zolnowska, Anne‐Liv Schulz, Lily Perrin, Najla Dickson, Mélanie Langlois, Amélie Lothe, Joseph Sullivan   +18 more
wiley   +1 more source

SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype

The Turkish Journal of Pediatrics, 2020
Background. Dravet syndrome (DS) is the most severe form of Generalized Epilepsy with Febrile Seizures plus (GEFS+) syndrome with a clear genetic component in 85% of the cases.
Valentina Peycheva, Elena Rodopska, Elena Slavkova, Iliyana Aleksandrova, Emil Simeonov, Petia Dimova, Veneta Bojinova, Vanyo Mitev, Albena Jordanova, Daniela Deneva, Dimitrina Hristova, Ivan Litvinenko, Nevyana Ivanova, Kunka Kamenarova, Margarita Panova, Iliana Pacheva, Ivan Ivanov, Maria Bojidarova, Genoveva Tacheva, Dimitar Stamatov, Radka Kaneva   +20 more
doaj   +1 more source