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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. Among authors: schrader d. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 Free PMC article.
Cingulate lesions presenting with epileptic spasms.
Schrader D, Langill L, Singhal A, Steinbok P, Connolly MB. Schrader D, et al. J Clin Neurophysiol. 2009 Oct;26(5):342-7. doi: 10.1097/WNP.0b013e3181baaacf. J Clin Neurophysiol. 2009. PMID: 19752743
Connectomic profiling and Vagus nerve stimulation Outcomes Study (CONNECTiVOS): a prospective observational protocol to identify biomarkers of seizure response in children and youth.
Siegel L, Yan H, Warsi N, Wong S, Suresh H, Weil AG, Ragheb J, Wang S, Rozzelle C, Albert GW, Raskin J, Abel T, Hauptman J, Schrader DV, Bollo R, Smyth MD, Lew SM, Lopresti M, Kizek DJ, Weiner HL, Fallah A, Widjaja E, Ibrahim GM. Siegel L, et al. Among authors: schrader dv. BMJ Open. 2022 Apr 8;12(4):e055886. doi: 10.1136/bmjopen-2021-055886. BMJ Open. 2022. PMID: 35396292 Free PMC article.
104 results