Results 151 to 160 of about 8,423 (186)

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center. [PDF]

Epileptic Disord
Karaer D, Yüzbaşı BK, Şahin İ, Güngör O, Karaer K.   +4 more
europepmc   +1 more source

Clinical characteristics and genetic analysis of patients with SCN1A gene pathological variant-related disorders: a single-center retrospective study. [PDF]

Ital J Pediatr
He M, Min X, Shu J, Wu B, Qi H, Wang X, Zhang G.   +6 more
europepmc   +1 more source

Association of SCN1A and SCN2A Gene Polymorphisms with Antiseizure Medication Responsiveness: A Case-Control Study from Eastern India. [PDF]

Ann Indian Acad Neurol
Sumanth K, Sinharoy U, Joardar A, Roy S, Pandit A, Gangopadhyay G.   +5 more
europepmc   +1 more source

Disrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model. [PDF]

Nat Commun
Fadila S, Krivoshein G, Majadly H, Mavashov A, Ranen S, Brusel M, Dopeso-Reyes IG, Beucher B, Kremer EJ, Tolner EA, Rubinstein M.   +10 more
europepmc   +1 more source

Integrating Pharmacodynamic Data to Prioritise Candidate Migraine Genes and Pathways Using a Novel Bioinformatics Workflow. [PDF]

J Clin Med
Stanworth M, Peukert T, Marley J, Puddifoot C, McDowell A, Murray E, Zhang SD.   +6 more
europepmc   +1 more source

Elicited Repetitive Daily Blindness Associated With Gain-of-Function <i>SCN1A</i> Variants and Responsiveness to Sodium Channel Blockers. [PDF]

Neurol Genet
Cestèle S, Harper AJ, Marra S, Leroudier N, Rusconi R, Dhifallah S, Horrocks IA, Kirkham FJ, Morgan IMR, Singh J, Stobo DJ, Symonds JD, Zuberi SM, Mantegazza M, Brunklaus A.   +14 more
europepmc   +1 more source

Genetic medicines for epilepsy: unlocking new avenues for seizure control. [PDF]

Front Bioeng Biotechnol
Wee IC, Przybyla M, Touma J, Ittner LM, van Eersel J.   +4 more
europepmc   +1 more source

Managing Secondary Findings from Germline Pharmacogenomic Testing. [PDF]

J Pers Med
Lee YM, Kearney E, Kisor DF, Farrell CL.
europepmc   +1 more source

A <i>SCN1A</i> missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree. [PDF]

Front Genet
Li XL.
europepmc   +1 more source