Results 71 to 80 of about 9,841 (192)

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

Epilepsia, EarlyView.
Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott, Maria Fernanda Hermosillo Arrieta, Aislinn J. Williams   +2 more
wiley   +1 more source

Prognosis of Infantile Spasms

Pediatric Neurology Briefs, 1993
The developmental, neurologic, and seizure outcome and prognostic factors of 57 cases of infantile spasms were evaluated in relation to etiology (cryptogenic 17 cases, symptomatic 40 cases) at the Hospital for Sick Children, Toronto, Canada.
J Gordon Millichap
doaj   +1 more source

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

Methysergide and Infantile Spasms

Pediatric Neurology Briefs, 1989
A trial of antiadrenergic and antiseretonergic drugs in the treatment of 24 newly diagnosed and previously untreated infantile spasm patients is reported from the Epilepsy Research Center, Section of Neurophysiology, Department of Neurology, Baylor ...
J Gordon Millichap
doaj   +1 more source

Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort [PDF]

, 2016
Kelly G. Knupp, Erin Leister, Jason Coryell, Katherine Nickels, Nicole Ryan, Elizabeth Juarez‐Colunga, William D. Gaillard, John R. Mytinger, Anne T. Berg, J Gordon Millichap, Douglas R. Nordli, Sucheta M. Joshi, Reneé A. Shellhaas, Tobias Loddenkemper, Dennis Dlugos, Elaine Wirrell, Joseph Sullivan, Adam L. Hartman, Eric H. Kossoff, Zachary M. Grinspan, Lorie Hamikawa   +20 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

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

Estudio clínico-genético de pacientes cubanos con síndrome de West Clinical and genetic studies in Cuban patients suffering from West syndrome

Revista de Ciencias Médicas de Pinar del Río, 2012
El síndrome de West constituye una encefalopatía epiléptica asociada a una amplia diversidad de factores causales, cuyas bases genéticas hasta el momento no se han estudiado en Cuba. Con el objetivo de describir las principales características clínicas y
Anitery Travieso Téllez, Araceli Lantigua Cruz, Ramiro García García   +2 more
doaj  

P.052 Benign spasms of infancy - a mimicker of infantile epileptic disorders [PDF]

, 2019
Jamie Ghossein, Daniela Pohl
openalex   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source