Results 61 to 70 of about 2,367 (191)

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 800-806, April 2026.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

PI3K/AKT Pathway and Brain Malformations

Pediatric Neurology Briefs, 2015
Investigators from Seattle Children's Research Institute, University of Washington, and collaborating institutions sought to evaluate 10 genes in the PI3K/AKT pathway as it relates epileptogenic brain malformations in patients with megalencephaly ...
Gavin B. Rice, Nitin R. Wadhwani
doaj   +1 more source

Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly

, 2002
An extremely rare case of congenital infiltrating lipomatosis of the face (CILF) associated with ipsilateral hemimegalencephaly is reported in a 3-month-old boy.
Karli-Oguz, K, AYDINGÖZ, ÜSTÜN, Emir, S, Buyukpamukcu, M, Kose, G   +4 more
core   +1 more source

Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 343-353, February 2026.
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong, Min‐Hee Lee, Hiroshi Uda, Yoon Ho Hwang, Michael Behen, Aimee Luat, Csaba Juhász, Eishi Asano   +7 more
wiley   +1 more source

Pericerebral spaces as diagnostic signposts in fetal central nervous system pathologies

Ultrasound in Obstetrics &Gynecology, EarlyView.
L. Guibaud, S. Cabet
wiley   +1 more source

Case Report of Rasmussen's Encephalitis With a Decade of Refractory Epilepsy and Hemispheric Atrophy

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Rasmussen's encephalitis (RE) is a rare, chronic inflammatory neurological disorder affecting one cerebral hemisphere and presenting with drug‐resistant epilepsy, progressive hemiparesis, and cognitive decline. This case report describes the clinical course and management of a 21‐year‐old patient with refractory epilepsy and progressive ...
Sajjad Al‐Badri, Aditya Duhan, Rania H. Al‐Taie, Abbas Hamza Abbas, Ayah Abdulgadir, Ibrahim Khalil, Zaryab Bacha, Noran Al‐Gizey   +7 more
wiley   +1 more source

Transarterial embolization versus hemispherectomy in infants with hemimegalencephaly and drug-resistant epilepsy

BACKGROUND: Hemimegalencephaly is a severe congenital brain malformation characterized by early-onset, medically refractory seizures. The standard treatment, surgical hemipherectomy (SH), is constrained by age-related limitations. To address this gap, we
Sanidas, Georgios, Kinney, Hannah, Basu, Sudeepta, Ruffini, Lindsay, Anwar, Tayyba, Oluigbo, Chima, Tsuchida, Tammy N, Kratimenos, Panagiotis, Gallo, Vittorio, Chandereng, Thevaasiinen, Israel, Shani, Lowe, Courtney R, Berl, Madison M, Wolff, Nora, Pearl, Monica S, Chang, Taeun   +15 more
core   +1 more source

Hemimegalencephaly [PDF]

, 2020
null Marc D. Benayoun, MD, PhD, null Julia D. Cameron-Morrison, DO   +1 more
  +4 more sources

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, Volume 11, Issue 1, Page 291-321, February 2026.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source