Results 211 to 220 of about 352,372 (280)

Complex febrile seizures-A systematic review.

Disease-a-month : DM, 2017
H. Whelan, Matthew Harmelink, Erica Chou, Delphin Sallowm, N. Khan, Rachit S. Patil, Kumar Sannagowdara, J. H. Kim, Wei Liang Chen, Suad Khalil, Iva Bajić, Aliyah Keval, D. Greydanus   +12 more
semanticscholar   +1 more source

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

Epilepsia, EarlyView.
Abstract Objective SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Alicia G. Harrison, Jan H. Magielski, Ian McSalley, Shiva Ganesan, Anna J. Prentice, Kristin G. Cunningham, Samuel R. Pierce, Michael J. Boland, Benjamin L. Prosser, Ingo Helbig, Jillian L. McKee   +10 more
wiley   +1 more source

Attention-deficit/hyperactivity disorder in children with a history of febrile seizures: a systematic review and meta-analysis. [PDF]

Eur J Pediatr
Woo H, Lee SU, Yun D, Jeong S, Cho H, Kim YS.   +5 more
europepmc   +1 more source

SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association

Epilepsia, EarlyView.
Abstract Objective The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause of epilepsy.
Ismael Ghanty, Eduardo Perez‐Palma, Camilo Villaman, Daniel Stobo, Joseph Symonds, Sameer Zuberi, Dennis Lal, Andreas Brunklaus   +7 more
wiley   +1 more source

Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures. [PDF]

Sci Rep
Scalise S, Gaeta A, Aprigliano E, Lucchino V, Covello R, Talarico M, Puccio B, Guzzi PH, Veltri P, Gambardella A, Lissner LJ, Morano A, Cifelli P, Alfano V, Palma E, Perozziello G, Ruffolo G, Cuda G, Parrotta EI.   +18 more
europepmc   +1 more source

Risk factors for subsequent febrile seizures in the FEBSTAT study

Epilepsia, 2016
D. Hesdorffer, S. Shinnar, Daniel N. Lax, J. Pellock, D. Nordli, Syndi Seinfeld, William B. Gallentine, L. Frank, D. Lewis, Ruth C. Shinnar, J. Bello, Stephen Chan, Leon G. Epstein, S. Moshé, Binyi Liu, Shumei S. Sun   +15 more
semanticscholar   +1 more source

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

Inflammation Emerges as a Sensitizer of a Heat-Responsive Cation Channel. [PDF]

Epilepsy Curr
Varvel NH.
europepmc   +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

BBB proteomic analysis reveals that complex febrile seizures in infancy enhance susceptibility to epilepsy in adulthood through dysregulation of ECM-receptor interaction signaling pathway. [PDF]

Fluids Barriers CNS
Wang Q, Pan L, Chen S, Zhang Y, Liu G, Wu Y, Qin X, Zhang P, Zhang W, Zhang J, Kong D.   +10 more
europepmc   +1 more source