Results 211 to 220 of about 118,836 (248)

The Use of Synaptic Extracellular Myo-Inositol to Treat Developmental and Epileptic Encephalopathy. [PDF]

Ann Child Neurol Soc
Vos EN, Demirbas D, Rodan L, Yang E, Prabhu SP, Chen J, Huang X, Qi W, Haynes RL, Lehtinen MK, Bennett MJ, He M, Pearl PL, Rubio-Gozalbo ME, Poduri A, Berry GT.   +15 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

The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics. [PDF]

Brain
Sundman AK, Jin S, Vadlamudi L, King GF.
europepmc   +1 more source

Visual Function Characteristics in <i>STXBP1</i> Epileptic Encephalopathy Patients. [PDF]

J Clin Med
Rosa A, Nowakowska D, Rosa P, Simiera J, Gliniany A, Zawadka M, Szczałuba K, Przyslo L, Szymańska K, Loba P, Gawęcki M, Pojda-Wilczek D.   +11 more
europepmc   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Surgical Treatment of Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep Associated with Polymicrogyria: A Case Report.

Stereotact Funct Neurosurg
Lessa VCC, Salcedo JC, Vieira JV, Capitão PS, Basilio Guimaraes R, Buratini JA, Cukiert CM, Cukiert A.   +7 more
europepmc   +1 more source

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. [PDF]

BMJ Case Rep
Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A.   +4 more
europepmc   +1 more source

Long‐term developmental outcome in infantile epileptic spasms syndrome after high‐dose prednisolone and vigabatrin treatment

Epilepsia Open, EarlyView.
Abstract Objective To evaluate long‐term developmental outcomes and identify independent predictors of favorable developmental outcomes at 3 years of age in children with infantile epileptic spasms syndrome (IESS) treated with a standardized stepwise vigabatrin and high‐dose prednisolone protocol.
Soyoung Jang, Hui Jin Shin, Se Hee Kim, Joon Soo Lee, Ara Ko, Hoon‐Chul Kang   +5 more
wiley   +1 more source

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review. [PDF]

BMC Neurol
Zhang Q, Yang Q, Zhou X, Zhang S, Ruan Y, Luo J.   +5 more
europepmc   +1 more source

Changes in effectiveness and safety in patients with Lennox–Gastaut syndrome transitioning from the fenfluramine randomized controlled trial to open‐label extension study

Epilepsia Open, EarlyView.
This graphical abstract provides an overview of the content from this post hoc analysis describing the trajectories of fenfluramine effectiveness and safety, along with dose changes over time, in patients with Lennox‐Gastaut syndrome. Abstract In the phase 3 randomized controlled trial (RCT; NCT03355209) of fenfluramine in Lennox–Gastaut syndrome (LGS),
Rima Nabbout, Orrin Devinsky, Lieven Lagae, Ingrid E. Scheffer, Renzo Guerrini, Joseph Sullivan, Antonio Gil‐Nagel, Sameer M. Zuberi, Kate Riney, Patrick Healy, Jayne Abraham, Rebecca Zhang Roper, Mélanie Langlois, Amélie Lothe, Kelly G. Knupp   +14 more
wiley   +1 more source