Results 131 to 140 of about 17,755 (294)

Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects

Epilepsia, EarlyView.
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo, Roberta Solazzi, Barbara Castellotti, Celeste Panteghini, Francesca Luisa Sciacca, Elisa Visani, Elena Freri, Francesca Ragona, Laura Canafoglia, Federica Zibordi, Giovanna Zorzi, Shari Gandelli, Cinzia Gellera, Silvana Franceschetti, Nardo Nardocci, Tiziana Granata   +15 more
wiley   +1 more source

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. [PDF]

Hum Genome Var, 2023
Watanabe K, Kubota K, Nakashima M, Saitsu H.   +3 more
europepmc   +1 more source

Attachment insecurity in infants with infantile spasms: Maternal anxiety and sadness, and infant's temperament outweigh disease severity [PDF]

, 2020
Laure Boissel, Guillaume Le Borgne, Luisa Fuentealba Baldini, Christelle Gosme, Marluce Leitgel Gille, Isabelle Desguerre, Bernard Golse, Rima Nabbout, Ayala Borghini, Lisa Ouss   +9 more
openalex   +1 more source

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population‐based study from the Norwegian Mother, Father, and Child Cohort Study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to determine the proportion of individuals with childhood and youth onset epilepsy who attain seizure freedom across seizure types, epilepsy types, etiologies, and syndromes using the latest International League Against Epilepsy (ILAE) classifications.
Truls Vikin, Richard F. Chin, Morten I. Lossius, Dag Hofoss, Ragnhild E. Brandlistuen, Kari M. Aaberg   +5 more
wiley   +1 more source

Adapting Action Recognition Neural Networks for Automated Infantile Spasm Detection

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Infantile spasms are a severe epileptic syndrome characterized by short muscular contractions lasting from 0.5 to 2 seconds. They are often misdiagnosed due to their atypical presentation, and treatment is frequently delayed, leading to stagnation or ...
Samuel Diop, Nouha Essid, Francois Jouen, Jean Bergounioux, Imen Trabelsi   +4 more
doaj   +1 more source

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms. [PDF]

J Paediatr Child Health, 2022
Dzau W, Cheng S, Snell P, Fahey M, Scheffer IE, Harvey AS, Howell KB.   +6 more
europepmc   +1 more source

Cellular properties of convulsant-treated rat neo-cortical neurons during postnatal development [PDF]

, 1989
Hablitz, John H., Kellaway, Peter, Noebels, Jeffrey L., Sutor, Bernd   +3 more
core   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

EEG biomarkers for the diagnosis and treatment of infantile spasms. [PDF]

Front Neurol, 2022
Romero Milà B, Remakanthakurup Sindhu K, Mytinger JR, Shrey DW, Lopour BA.   +4 more
europepmc   +1 more source

Prevention of infantile spasms in tuberous sclerosis complex [PDF]

, 2021
Finbar O’Callaghan
openalex   +1 more source