Results 51 to 60 of about 1,515 (213)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Is food insecurity a newly identified risk factor in febrile convulsion?

Adıyaman Üniversitesi Sağlık Bilimleri Dergisi, 2022
Aim: Food insecurity status was evaluated in the cases diagnosed with febrile convulsions (FC) and whether food insecurity was a risk factor in FC was investigated.
Hilal Aydın, İbrahim Bucak
doaj   +1 more source

Effects of information on parental knowledge of febrile convulsions

, 1999
The purpose of this study was to study the effects of giving information to parents with febrile convulsive children. All parents of children with febrile convulsions who are seen at Worcester Royal Infirmary are given information.
Wassmer, Evangeline, Hanlon, Marie
core   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

A translational multimodal machine‐learning prototype predicting valproate response in epilepsy treatment

Epilepsia, EarlyView.
Abstract Objective Epilepsy affects ~1% of the global population and often requires lifelong antiseizure medication (ASM) therapy. Valproic acid (VPA) is a commonly prescribed first‐line ASM, yet only approximately half of patients achieve sustained seizure freedom. Treatment selection remains largely empirical.
Simeon Platte, Afsheen Kumar, Giorgia Guerini, Massimo Pandolfo, Denise Haslinger, Colin B. Josephson, Guillermo Delgado‐García, Navprabhjot Kaur, Michaela‐Pauline Lux, Heiko Stempfle, Chantal Depondt, Reetta Kälviäinen, Felix Rosenow, Sophie von Brauchitsch, Karl Martin Klein, Andreas G. Chiocchetti   +15 more
wiley   +1 more source

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

Risk of Epilepsy After Complex Febrile Seizures

Pediatric Neurology Briefs, 2001
The risk of epilepsy developing after complex febrile seizures (CFS) was studied in 477 children admitted between 1991 and 1998 with febrile convulsions at Tel Aviv Medical Center, Israel.
J Gordon Millichap
doaj   +1 more source

Intensive Induction in AML in the Era of Venetoclax: A Standing Count for “7 + 3”?

American Journal of Hematology, EarlyView.
Sudhir Tauro, Ayalew Tefferi
wiley   +1 more source

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

Epilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source