Results 211 to 220 of about 15,708 (241)

Altered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy. [PDF]

JCI Insight
Ramos-Mondragon R, Wang S, Edokobi N, Liu Q, Qiao X, Shih M, Dang LT, Tsan YC, Štěrbová K, Helms AS, Weckhuysen S, Lopez-Santiago LF, Parent JM, Isom LL.   +13 more
europepmc   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases. [PDF]

Brain Commun
Juliá-Palacios N, Muñoz-Pujol G, Maroofian R, Bertoli-Avella AM, Gómez-Chiari M, Muchart-López J, Paredes-Fuentes AJ, O'Callaghan M, Machado-Casas IS, Cristian I, Morrison J, Garcia-Cazorla A, Codina A, Miryounesi M, Zonic E, Bauer P, Cheema H, Anjum MN, Al-Sannaa N, Abd Elmaksoud M, Ababneh F, Alijanpour S, Tonekaboni SH, Fayazi A, Urbaniak M, Barba U, Hoenicka J, Palau F, Houlden H, Ortigoza-Escobar JD, Ribes A, Santos-Ocaña C, Tyler M, Gaffney P, Carroll CJ, Tort F, Wierenga KJ, Webb BD, Artuch R, Baide-Mairena H, Urreizti R.   +40 more
europepmc   +1 more source

Pharmacological effects of gastrodin: Insight into neurological diseases and mechanism in ferroptosis and pyroptosis

Ibrain, Volume 11, Issue 1, Page 74-83, Spring 2025.
Pharmacological effects of gastrodin include prevention and treatment of cognitive decline and reperfusion injuries, anticonvulsion, antiepilepsy, antidepressants, and analgesia, which are related to antiferroptosis and antipyroptosis. Abstract Gastrodin, as an effective monomer of gastrodia elata, plays a significant role in anti‐inflammatory ...
Xue Zheng, Jing Li, Zhao‐Qiong Zhu
wiley   +1 more source

Long-term treatment with carbamazepine restores cognitive abilities in a mouse model of KCNQ2 developmental and epileptic encephalopathy. [PDF]

Epilepsia Open
Louis J, Doudka N, Félix MS, Spiga Ghata A, Espanet C, Guilhaumou R, Milh M, Villard L.   +7 more
europepmc   +1 more source

Survival of individuals with neurological and oncological diseases receiving home enteral nutrition: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Introduction Home enteral nutrition is mainly indicated for individuals with neurological or oncological diseases. However, few studies have evaluated survival in this population in low‐ and middle‐income countries. Objective To investigate factors influencing survival in individuals receiving home enteral nutrition and to identify variables ...
Giuliane de Matos Wrobel, Cesar Augusto Taconeli, Rubia Daniela Thieme, Maria Eliana Madalozzo Schieferdecker   +3 more
wiley   +1 more source

Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy. [PDF]

Cureus
Buhusayen FAM, Alashraaf M, Jadah RHSH.
europepmc   +1 more source

Clobazam versus corticosteroid for developmental and epileptic encephalopathy with spike-wave activation in sleep ((D)EE-SWAS): Results of a multicenter observational study. [PDF]

Epilepsia
van Arnhem MML, Vijn LJ, Rubboli G, Khinchi MS, Dimova P, Perucca E, De Giorgis V, Metsähonkala L, Ramantani G, Jansen A, Chin R, Lagae L, Arzimanoglou A, Otte WM, Leijten FSS, van Teeseling HC, Braun KPJ, Jansen FE, van den Munckhof B.   +18 more
europepmc   +1 more source

New variants and genotype-phenotype correlation of <i>PPP3CA</i>-related developmental and epileptic encephalopathy. [PDF]

Front Neurosci
Wang T, Ouyang S, Niu X, Cheng M, Yang Y, Yang Y, Tan Q, Liu W, Yang X, Zhang Y.   +9 more
europepmc   +1 more source

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy? [PDF]

Mol Cell Pediatr
Falsaperla R, Sapuppo A, Pappalardo XG, Rizzo R, Rocca R, Fusto G, Marino S, Sortino V, Saccuzzo L, Ruggieri M, Fichera M.   +10 more
europepmc   +1 more source