Results 201 to 210 of about 118,836 (248)

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy. [PDF]

Nat Med
Nakayama T, El Achkar CM, Burbano LE, Quraishi IH, Wu J, Li M, Asami Y, Golinski SR, Sherrill E, Goodlett BD, de Gusmao CM, Friedman DA, Lentucci C, Suslovitch V, Riccardi O, Faour KNW, Kuniholm A, Soucy Verran A, Coffman S, Ahtam B, Zhao B, Chin DH, DiDonato RL, Hu CA, Lopez E, Hills S, Maljevic S, Tran H, Bush LW, Grant PE, Madsen JR, Smith RS, Kaczmarek LK, Berde CB, Yu TW.   +34 more
europepmc   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Epileptic encephalopathy with spike-and-wave activation in sleep associated with Tatton-Brown-Rahman syndrome responsive to highly purified cannabidiol. [PDF]

Epileptic Disord
Datta AN.
europepmc   +1 more source

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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy. [PDF]

Am J Hum Genet
De Pace R, Dominguez Gonzalez CA, Williamson CD, Helman G, Sanderson LE, Disanza B, Hsiao-Sánchez N, Pizzino A, Muirhead K, Bonkowsky JL, Taft RJ, Sannaa NA, Dias P, Quintas AS, Mutlu MB, Bas H, Oztürk H, Mojarrad M, Alerasool M, Sheikhani S, Jabbar HK, Issa AH, Houlden H, Zonic E, Barakat TS, Tripolski K, Romito A, Teferedegn E, Vossough A, Whitehead MT, Bhoj E, Ahrens-Nicklas RC, Simons C, Wolvetang E, van Ham TJ, Bertoli-Avella AM, Maroofian R, Bonifacino JS, Vanderver A.   +38 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

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy. [PDF]

Am J Hum Genet
Morsy H, Kim H, Jang G, Zaki MS, Severino M, Abdelrazek IM, Hussien H, Self E, Albaradie RS, Bakur K, Firoozfar Z, Efthymiou S, Noureldeen MM, Nabil A, Alvi JR, Molavi F, Alavi S, Alibakhshi R, Topcu V, Mancilar H, Uctepe E, Yesilyurt A, Aldhalaan H, Showki Tous ES, Alhaddad B, Elbendary HM, Scardamaglia A, Murphy D, Yépez VA, Gagneur J, Omar TI, Abd Elmaksoud M, Vandrovocova J, Abdalla E, Reilly MM, Sultan T, Alkuraya FS, Gleeson JG, Um JW, Houlden H, Ko J, Maroofian R.   +41 more
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

Neuron-specific WWOX gene therapy produces dose-dependent, durable rescue in a model of WWOX-related epileptic encephalopathy. [PDF]

Mol Ther Adv
Obeid M, Akkawi R, Repudi S, Singh PK, Abudiab B, Jebara T, Berent A, Brennan T, Weiss Y, Shekh-Ahmad T, Aqeilan RI.   +10 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