Results 121 to 130 of about 133,799 (192)

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

COL4A1‐Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report two Palestinian siblings with a pathogenic COL4A1 mutation, presenting with congenital cataracts, seizures, developmental delay, and antenatal intracerebral hemorrhages. Despite sharing the same genetic variant, they exhibited striking phenotypic variability.
Thkra Meshal, Amal M. Shawabka, Kareem lbraheem, Rosol Iwaiwi, Nissreen E. Thafer, Jinan H. Afana, Ahmad G. Hammouri, Osama Atawneh   +7 more
wiley   +1 more source

Long‐term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI

Epilepsia Open, Volume 10, Issue 5, Page 1605-1616, October 2025.
Abstract Objective Neonatal seizures initiate the onset of epilepsy in less than 20% of cases. Establishing accurate and prompt diagnosis for precision medicine, offering tailored care, and informing families about neurodevelopmental prognosis represents a significant challenge.
Thibault Beretti, William Rozalen, Laurent Villard, Florence Riccardi, Geraldine Daquin, Anne Lepine, Nathalie Villeneuve, Mathieu Milh, Béatrice Desnous   +8 more
wiley   +1 more source

The Values and Preferences of People Living With Motor Neurone Disease (MND): A Systematic Review Protocol

Clinical and Public Health Guidelines, Volume 2, Issue 4, October 2025.
ABSTRACT Objective To systematically review the values and preferences of people with lived experience of motor neurone disease (MND), including those living with MND, caregivers and genetic carriers, regarding their health‐related outcomes. Introduction MND is a devastating neurodegenerative disease that significantly impacts those living with the ...
Timothy Hugh Barker, Grace Holland, Camille Schubert, Danielle Pollock, Cindy Stern, Nipun Shrestha, Wojtek Wiercioch, Samer Karam, Steve Vucic, Jay Beasley‐Hall, Lynne Giles, Tracy Merlin, Zachary Munn   +12 more
wiley   +1 more source

Examining the association between placental malperfusion assessed by histopathological examination and child and adolescent neurodevelopment: a systematic review

Journal of Child Psychology and Psychiatry, Volume 66, Issue 10, Page 1606-1620, October 2025.
Background Placental malperfusion, categorised into maternal vascular malperfusion (MVM) and foetal vascular malperfusion (FVM), is a main placental pathology known to affect placental functioning and offspring outcomes. The aim of this review is to evaluate the association between exposure to placental malperfusion and offspring neurodevelopment from ...
Noha Ibrahim, Sydni A. Weissgold, Lucy Brink, Ibtihal Mahgoub, Ben Carter, Vaheshta Sethna, Hein Odendaal   +6 more
wiley   +1 more source

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

Zdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia. [PDF]

BMC Med Genomics
Safarian Z, Mehrabi S, Rakhshani Nejad A, Alavimanesh S, Kavousinia P, Shushizadeh MH, Hassani SF, Onagh L, Sarli A, Rezaie N.   +9 more
europepmc   +1 more source

Editorial: The effects of emerging and commonly used medications on the developing brain. [PDF]

Front Pediatr
Burnsed J, Chavez-Valdez R.
europepmc   +1 more source

Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a <i>de novo</i> variant: a case report and literature review. [PDF]

Front Pediatr
Zhu GQ, Yao Y, Yang LY, Hua Y, Li GM.
europepmc   +1 more source

Gut Microbiota Composition and Modulation in Developmental and Epileptic Encephalopathies. [PDF]

Eur J Neurosci
Ammar T, Abdelhedi F, Keskes LA, Triki CC.   +3 more
europepmc   +1 more source