Results 91 to 100 of about 3,423 (221)

Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy

Epilepsia, Volume 66, Issue 6, Page e98-e105, June 2025.
Abstract De novo variants in KCNQ2 cause neonatal onset developmental and epileptic encephalopathy (KCNQ2‐DEE; Online Mendelian Inheritance in Man #613720), most often by loss‐of‐function in vitro effects. In this study, we describe a neonatal onset DEE proband carrying a recurrent de novo KCNQ2 variant (c.794C>T; p.A265V) affecting the pore domain of ...
Ingride Luzio Gaspar, Gaetano Terrone, Giusy Carleo, Lidia Carotenuto, Francesco Miceli, Gabriella De Vita, Maurizio Taglialatela   +6 more
wiley   +1 more source

Combination Therapy With Vigabatrin and Prednisolone Versus Vigabatrin Alone for Infantile Spasms

Annals of Clinical and Translational Neurology, Volume 12, Issue 5, Page 1012-1021, May 2025.
ABSTRACT Objective The study evaluated the effectiveness of combination therapy with vigabatrin and prednisolone versus vigabatrin alone for treating infantile epileptic spasms syndrome (IESS). Methods This single‐center, single‐blind, randomized trial enrolled infants aged 2–14 months with new‐onset IESS, randomly assigned them (1:1) to receive either
Rachata Boonkrongsak, Kantapon Trongkamolchai, Sirorat Suwannachote, Somjit Sri‐Udomkajorn, Raviwan Wittawassamrankul, Ravindra Arya, Kullasate Sakpichaisakul   +6 more
wiley   +1 more source

Rapid ictal transition of focal epilepsy to infantile spasms in neurofibromatosis type 1 captured with EEG

Epilepsy & Behavior Reports, 2020
We report a novel case of an infant with neurofibromatosis type 1 (NF1) who presented with new onset presumed focal impaired awareness seizures with motor onset followed by rapid progression to infantile spasms (IS). Electroencephalography (EEG) captured
Shital H. Patel, Robert P. Carson, Lori C. Jordan, Lindsay M. Pagano   +3 more
doaj  

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]

, 2014
Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu, Du, Xiaonan, Guo, Xiaohong, Jiang, Yong-hui, Liu, Renchao, Qin, Yanrong, Sun, Daokan, Wang, Yi, Wu, Bailin, Yu, Lifei, Zhou, Shuizhen   +10 more
core   +1 more source

Ketogenic diet therapy for the treatment of pediatric epilepsy

Epileptic Disorders, Volume 27, Issue 2, Page 144-155, April 2025.
Abstract In 1921, the classic ketogenic diet was created at the Mayo Clinic in Rochester, Minnesota to treat epilepsy in children and adults. Over a century later, it is a widely used, standard‐of‐care therapy for typically treatment‐resistant epilepsy worldwide.
Babitha Haridas, Alexander Testino, Eric H. Kossoff   +2 more
wiley   +1 more source

ACTH in Infantile Spasms

Pediatric Neurology Briefs, 1990
The relationship between dose of ACTH and the initial effect and long-term prognosis was investigated in 41 children with infantile spasms at the Department of Pediatrics, Kyoto University, Kyoto, Japan.
J Gordon Millichap
doaj   +1 more source

Comparison of the Effect of High and Low Doses of Adrenocorticotropic Hormone (ACTH) in the Management of Infantile Spasms [PDF]

, 2020
Introduction:Infantile spasmscan have irrecoverable adverse effects on a child’s brain. Adrenocorticotropic hormone (ACTH) is the most common first line medication for its treatment; however, the suitable dose and duration of treatment continue to be ...
Dehghani, maryam, Eslamian, Reihane, Fayyazi, Afshin, Khajeh, Ali   +3 more
core   +2 more sources

Disparities in the utilization of genetic testing for non‐acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina

Epilepsia Open, Volume 10, Issue 2, Page 477-486, April 2025.
Abstract Objective To investigate disparities in the utilization of genetic sequencing among children with Infantile Epileptic Spasms Syndrome (IESS), a severe early‐onset epilepsy where timely diagnosis and treatment are crucial for improving neurodevelopmental outcomes, previous studies have highlighted disparities in the evaluation and management of
Kenza El Marzouki, Bridley K. Jenkins, Tamy Moraes Tsujimoto, Huijun Jiang, Emma B. Cardwell, Martin Arhin, Unwana Eyo, Cristian Gonzalez‐Rodriguez, Stephanie Peck, Feng‐Chang Lin, Senyene E. Hunter   +10 more
wiley   +1 more source

Theophylline-Induced Infantile Spasms

Pediatric Neurology Briefs, 1995
Infantile spasms and hypsarrhythmia developed in a 6-month-old infant with asthma after 3 days treatment with theophylline at the Royal Belfast Hospital for Sick Children, Northern Ireland.
J Gordon Millichap
doaj   +1 more source

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy [PDF]

, 2013
Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors.
Akita, Tenpei, Fukuda, Atsuo, Furukawa, Tomonori, Hayasaka, Kiyoshi, Hoshino, Hideki, Iwata, Satomi, Kato, Mitsuhiro, Kodera, Hirofumi, Koshimizu, Eriko, Kubota, Masaya, Kumada, Tatsuro, Matsumoto, Naomichi, Miyake, Noriko, Miyatake, Satoko, Nakamura, Kazuyuki, Nakamura, Shinichi, Nakashima, Mitsuko, Nishiyama, Kiyomi, Ogata, Kazuhiro, Osaka, Hitoshi, Saitsu, Hirotomo, Shiihara, Takashi, Shiina, Masaaki, Terashima, Hiroshi, Tohyama, Jun, Tsurusaki, Yoshinori   +25 more
core   +1 more source