Results 201 to 210 of about 32,140 (267)

Compensatory rearrangement of parvalbumin interneuron voltage‐gated sodium channel subunits in a mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Heterozygous loss‐of‐function variants in the gene SCN1A, which encodes the voltage‐gated sodium channel (VGSC) pore‐forming (α) subunit NaV1.1, lead to a spectrum of neurological disease, including Dravet syndrome. NaV1.1 is prominently expressed at the proximal portion of the axon initial segment (AIS) of fast‐spiking γ‐aminobutyric ...
Ania K. Dabrowski, Ala Somarowthu, Sophie R. Liebergall, Damaris N. Lorenzo, Ethan M. Goldberg   +4 more
wiley   +1 more source

Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy. [PDF]

J Clin Neurol, 2016
Kim HR, Kim GH, Eun SH, Eun BL, Byeon JH.   +4 more
europepmc   +1 more source

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva, Elena González‐Alguacil, Patricia Smeyers, Sara Hernández, Victor Soto‐Insuga, Alejandro Fernández‐Cabrera, Laura Olivié, Teresa de Santos, Beatriz Parejo, Lucas Iacampo, Belén Ortuño, Javier Aparicio, Montserrat Fuentes, Juan Rodriguez‐Uranga, Paula Martínez‐Agredano, José Carlos Estévez, Angel Aledo‐Serrano, Rocio Martin‐Alvarez, David Conejo, Belen Baena, Blanca Mercedes‐Álvarez, Yolanda López, Alba Sierra‐Marcos, Rocio Trincado‐Lamuño, Mouna Ennazeh, Jesús González de la Aleja, Julia Renau, Maria Dolores Castro‐Vilanova, Fátima Romero‐Aguilera, José M. Serratosa   +29 more
wiley   +1 more source

Intermittent fasting with medium‐chain triglycerides in drug‐resistant epilepsy: A pilot crossover trial

Epilepsia, EarlyView.
Abstract Objective Ketogenic dietary therapies can reduce seizure frequency in drug‐resistant epilepsy, but adherence to the classical ketogenic diet is often poor. Intermittent fasting supplemented with medium‐chain triglycerides (MCTs) may offer a more feasible and less restrictive alternative.
Wiebke Hahn, Emily Falk, Ayla Balzter, Tobias Foer, Shanin Maierhofer, Sophia Jaumann, Sascha Strehlau, Leona Möller, Panagiota‐Eleni Tsalouchidou, Katja Menzler, Lars Timmermann, Susanne Knake   +11 more
wiley   +1 more source

Childhood absence epilepsy: what is all the distraction about? [PDF]

Epilepsy Curr, 2014
Caplan R.
europepmc   +1 more source

SUDEP and mortality in developmental and epileptic encephalopathies: A meta‐analysis of randomized clinical trials and extension studies

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are associated with high premature mortality and increased risk of sudden unexpected death in epilepsy (SUDEP). However, epidemiological data remain limited, particularly for specific syndromes such as Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), and infantile epileptic ...
Pierludovico Moro, Maria Sole Borioni, Adolfo Mazzeo, Enrico Cocchi, Carlo Di Bonaventura, Emanuele Cerulli Irelli   +5 more
wiley   +1 more source

Paying attention to school achievement in childhood absence epilepsy. [PDF]

Epilepsy Curr, 2014
Loring DW.
europepmc   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Journal club: pretreatment EEG in childhood absence epilepsy. [PDF]

Neurology, 2014
Bernson-Leung ME, Mazumdar M.
europepmc   +1 more source

Magnetoencephalographic source imaging improves localization of the epileptogenic zone in multimodal imaging evaluation

Epilepsia, EarlyView.
Abstract Objective To assess the added diagnostic value of magnetoencephalographic source imaging (MSI) beyond conventional magnetic resonance imaging (MRI) and fluorodeoxyglucose–positron emission tomography (FDG‐PET) in localizing the epileptogenic zone, with stereo‐electroencephalography (SEEG) and surgical resection serving as reference standards ...
Romain Bouet, Marc Hermier, Karine Ostrowsky‐Coste, Sebastien Daligault, Sandrine Bouvard, Hélène Catenoix, Alexandra Montavont, Sébastien Boulogne, François Mauguière, Sylvain Rheims, Julien Jung   +10 more
wiley   +1 more source