Results 131 to 140 of about 17,625 (287)

Absence seizures and sleep–wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder

Epilepsia, EarlyView.
Abstract Objective Pathogenic mutations in GRIN2B are an important cause of severe neurodevelopmental disorders resulting in epilepsy, autism, and intellectual disability. GRIN2B encodes the GluN2B subunit of N‐methyl‐d‐aspartate receptors (NMDARs), which are ionotropic glutamate receptors critical for normal development of the nervous system and ...
Katerina Hristova, Melissa C. M. Fasol, Niamh McLaughlin, Mohammad Sarfaraz Nawaz, Mehmet Taskiran, Ingrid Buller‐Peralta, Anjanette P. Harris, Andrew Sutherland, Alejandro Bassi, Adrian Ocampo‐Garces, Javier Escudero, Peter C. Kind, Alfredo Gonzalez‐Sulser   +12 more
wiley   +1 more source

The ACTH Quandary: Balancing Efficacy and Affordability for Infantile Spasms Treatment. [PDF]

Epilepsy Curr, 2023
Aungaroon G.
europepmc   +1 more source

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

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

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

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

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

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

A reliable interictal EEG grading scale for children with infantile spasms – The 2021 BASED score

, 2021
John R. Mytinger, Jorge Vidaurre, Melissa Moore‐Clingenpeel, Joseph Stanek, Dara V.F. Albert   +4 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

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