Results 271 to 280 of about 356,587 (360)

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

Epilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Sébastien Boulogne, Maryline Carneiro, Nicolas Chatron, Bertrand Isidor, Laure Lacan, Gaëtan Lesca, Sylvie Nguyen, Diana Rodriguez, Sabrine Souci, Stéphanie Valence, Laurent Villard, Mathieu Milh, Béatrice Desnous   +17 more
wiley   +1 more source

An overview of risk factors in children with febrile seizures. [PDF]

Tunis Med
Abbari I, Gueddari W, Bousfiha AA.
europepmc   +1 more source

20 Clinical Characteristics of Hospitalized Children with Febrile Seizure. Child Health Institute [PDF]

, 2005
A E Ballón, Juan Pablo Chalco
openalex   +1 more source

Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of ANKH causes self‐limited familial infantile epilepsy

Epilepsia, EarlyView.
Abstract Objective Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.‐11C>T change upstream of the gene's normal ATG initiation codon of ...
Josua Kegele, Hendrik Juenger, Harald Frantzmann, Dieter Gläser, Marc Sturm, Holger Lerche, Tobias B. Haack, Ingrid Bader   +7 more
wiley   +1 more source

Long-Term Fish Oil Supplementation Attenuates Spike Wave Discharges in the Amygdala of Adult Rats with Early-Life Febrile Seizures. [PDF]

Brain Sci
Flores-Mancilla LE, Hernández-González M, Guevara-Pérez MÁ, Bonilla-Jaime H, Gaytán-Pacheco N, Reyes-Estrada CA, Pacheco-Moisés FP.   +6 more
europepmc   +1 more source

Do clinical variables predict an abnormal EEG in patients with complex febrile seizures? [PDF]

, 2005
Charuta Joshi, Teresa Wawrykow, Jill Patrick, Asuri N. Prasad   +3 more
openalex   +1 more source

Generation of Febrile Seizures and Subsequent Epileptogenesis

Neuroscience Bulletin, 2016
Bo Feng, Zhong Chen
semanticscholar   +1 more source

GABRA2‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features

Epilepsia, EarlyView.
Abstract Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding the α‐2 subunit of GABAA receptors, have been recently reported.
Marie Adamo‐Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Arnaud Chefdor, Yorsa Halleb, Maxime Colmard, Manon Degoutin, Gaetan Lesca, Perrine Charles, Boris Keren, Nicole Chemaly, Cyril Goizet, Mathieu Milh, Claire Bar   +15 more
wiley   +1 more source

Febrile Convulsions Induced by the Combination of Lipopolysaccharide and Low‐dose Kainic Acid Enhance Seizure Susceptibility, Not Epileptogenesis, in Rats [PDF]

, 2005
James G. Heida, G. Campbell Teskey, Quentin J. Pittman   +2 more
openalex   +1 more source

Development of a preclinical testing platform for clinically relevant therapy for Dravet syndrome

Epilepsia, EarlyView.
Abstract Objective Patients with drug‐resistant epilepsy, including Dravet syndrome, are frequently prescribed multiple antiseizure medications. Nevertheless, people with Dravet syndrome often have inadequate seizure control, and there is an ongoing unmet clinical need to identify novel therapeutics.
Jeffrey A. Mensah, Kyle E. Thomson, Jennifer L. Huff, Tia Freeman, Christopher A. Reilly, Joseph E. Rower, Cameron S. Metcalf, Karen S. Wilcox   +7 more
wiley   +1 more source