Results 231 to 240 of about 88,373 (350)

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome. [PDF]

BMC Pediatr
Wu R, Li X, He Z, Meng Z, Liang L, Tang W.   +5 more
europepmc   +1 more source

Reversible acquired epileptic frontal syndrome and CSWS suppression in a child with congenital hemiparesis treated by hemispherotomy

, 2008
Christine Kallay, Claire Dubois, Malin Maeder‐Ingvar, Margritta Seeck, D. Debatisse, Thierry Deonna, Eliane Roulet‐Perez   +6 more
openalex   +2 more sources

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard, Blandine Dozières‐Puyravel, Katia Geraldes, Céline Perrot, Virginie Quéméner, Estelle Goujon, Pierre Truchy, Hala Nasser, François‐Xavier Mauvais, Marion Danse, Stéphane Auvin   +10 more
wiley   +1 more source

Sleep in Lennox-Gastaut Syndrome: A Scoping Review. [PDF]

Children (Basel)
Samanta D.
europepmc   +1 more source

The Epileptic Heart Syndrome: Epidemiology, pathophysiology and clinical detection

Richard L. Verrier, Steven C. Schachter
openalex   +1 more source

Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience [PDF]

Aristides Hadjinicolaou, Christina Briscoe Abath, Avantika Singh, Stephanie Donatelli, Catherine L. Salussolia, Alexander L. Cohen, Jie He, Nishtha Gupta, Sabrina Merchant, Bo Zhang, Heather E. Olson, Christopher J. Yuskaitis, Mark H. Libenson, Chellamani Harini   +13 more
openalex   +1 more source

Serum lipids and anticonvulsants [PDF]

, 1982
Berlit, Peter, Heuck, C. C., Krause, Klaus-Henning, Schellenberg, Bernhard   +3 more
core  

L‐Relationship between uncertainty and average seizure frequency in clinical trials of antiseizure medications

Epilepsia, EarlyView.
Abstract Objective Antiseizure medications are approved based on clinical trials that demonstrate their efficacy as measured by reductions in seizure frequency (SF). When designing these trials, trialists must select inclusion criteria where SF can be reliably measured to maintain statistical power.
Wesley T. Kerr, Neo Kok, Katherine N. McFarlane, Advith S. Reddy, Lavanya Biju, Jacqueline A. French, Daniel M. Goldenholz   +6 more
wiley   +1 more source

Lateralized periodic discharges due to mutated PLEKHG2 in an infant with congenital nephrotic syndrome: a case report and literature review. [PDF]

Transl Pediatr
Wang X, Xu Y, Wang C, Zhang Z, Mei H, Ma X, Shi L, Chen Z.   +7 more
europepmc   +1 more source