Results 181 to 190 of about 15,708 (241)

Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the ...
Sébile Tchaicha, Johanna Van Hulle, Eva Brilstra, Andreas Brunklaus, Gaetano Cantalupo, Martin Geroldinger, Amy McTague, Reetta Kälviäinen, Eulalia Turón‐Viñas, Alexis Arzimanoglou, Rikke S. Møller, Rima Nabbout   +11 more
wiley   +1 more source

Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy. [PDF]

Brain
Teoh J, Simko J, Camp CR, Liu CJ, Wang W, Williams DJ, Ma L, Soundararajan D, Martin C, Taylor NK, François E, Petri S, Kanber A, Ravichandra A, Pero ME, Bartolini F, Swayne TC, Lutz CM, Zuberi A, Rubinstein M, Hausman-Kedem M, Yuan H, Gelinas JN, Sands TT, Harper SQ, Traynelis SF, Makinson CD, Frankel WN.   +27 more
europepmc   +1 more source

Complete lesion resection and early surgical intervention are favorable factors for long‐term seizure freedom in drug‐resistant epileptic spasms

Epilepsia Open, EarlyView.
Abstract Objective Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long‐term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.
Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo   +7 more
wiley   +1 more source

Correction: Role of the YWHAG gene mutations in developmental and epileptic encephalopathy. [PDF]

Front Neurosci
Vilmont V, Nowakowski RS, Zhou Y.
europepmc   +1 more source

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies. [PDF]

Qual Life Res
Ludwig NN, Licari MK, Wojnaroski M, Conecker G, Hecker J, Hommer R, Muzyczka K, Jacoby P, Downs J.   +8 more
europepmc   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy. [PDF]

Sci Rep
Oh DE, Jang SS, Kim WJ, Kim SY, Lim BC, Kim KJ, Lee S, Chae JH.   +7 more
europepmc   +1 more source

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

Epilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim, Eungu Kang, Naeun Kwak, Suhyun Kim   +3 more
wiley   +1 more source

Taking It to the Limit: A Novel GRIN2D Developmental and Epileptic Encephalopathy Rodent Model With Severe Seizures. [PDF]

Epilepsy Curr
Eyal S.
europepmc   +1 more source