Results 271 to 280 of about 107,776 (362)

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Mesial-to-lateral gradients of epileptiform activity to localize mesial temporal lobe epilepsy. [PDF]

Epilepsia
Aguila CA, Lucas A, Lavelle S, Pattnaik AR, Kim J, Ojemann WKS, Ma D, Josyula M, Petillo N, LaRocque JJ, Sinha SR, Ellis CA, Parashos A, Gleichgerrcht E, Davis KA, Litt B, Conrad EC.   +16 more
europepmc   +1 more source

Brain lesion extent, growth, and body composition in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the relationship between growth, body composition, and the extent of brain lesion measured using structural magnetic resonance imaging (MRI) in children with cerebral palsy (CP). Method This prospective population‐based cohort study recorded 359 assessments from 124 children with CP aged 18 months to 13 years (38% female ...
Stina Oftedal, Simona Fiori, Kristie L. Bell, Katherine A. Benfer, Leanne Sakzewski, Robert S. Ware, Peter S. W. Davies, Roslyn N. Boyd   +7 more
wiley   +1 more source

Construction of a diagnostic model for temporal lobe epilepsy using interpretable deep learning: disease-associated markers identification. [PDF]

Front Artif Intell
Wang T, Wang A, Zhu M, Jiang W, Li M, Yan S, Shu Y, Yu S, Lin Z, Han Z.   +9 more
europepmc   +1 more source

Multinodular and vacuolating neuronal tumors in epilepsy: dysplasia or neoplasia? [PDF]

, 2018
An S, Aronica E., Bongaarts A, Bucur S, Honavar M, Jacques T, Jäger HR, Liu J, Marsdon D, McEvoy A, Miserocchi A, Newman F, Paradiso B, Reeves C, Reinten RJ, Somani A, Thom M, Thorne L   +17 more
core  

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Autism Spectrum Disorder and Temporal Lobe Epilepsy in a Physician: A Self-Reported Case of Neuropsychiatric and Functional Adaptations. [PDF]

Cureus
Luna-Mendoza I, Torres-Rasgado E, Cerón-Morales JA.   +2 more
europepmc   +1 more source

Global, regional and national burden of epilepsy in children and adolescents, 1990–2021: A systematic analysis for the Global Burden of Disease Study 2021

European Journal of Clinical Investigation, EarlyView.
Globally, in 2021, there were 18.15 million prevalent cases of epilepsy in children and adolescents (8.24 and 9.91 million of idiopathic and secondary epilepsy, respectively). Between 1990 and 2021, the prevalence rate of secondary epilepsy increased by 16.14%, with especially high increases attributable to neonatal encephalopathy, neonatal jaundice ...
Yun Seo Kim, Min Seo Kim, Seoyeon Park, Lee Smith, Joaquim Radua, Sarah Soyeon Oh, Stefania I. Papatheodorou, Hoon‐Chul Kang, Ara Ko, Dong Keon Yon, Jae Il Shin   +10 more
wiley   +1 more source

Excitatory-inhibitory imbalance in temporal lobe epilepsy: a 5T multimodal MRI biomarker for focus localization and drug resistance stratification. [PDF]

Front Aging Neurosci
Huang Z, Deng H, Xu Y, Shi L, Jiang Q, Xue K, Li L, Wei Y, Xia X, Meng X.   +9 more
europepmc   +1 more source

Drug discovery and preclinical testing of drug candidates for developmental and epileptic encephalopathies

Epilepsia, EarlyView.
Abstract Drug development for developmental and epileptic encephalopathies (DEEs) follows different strategies on one hand including disease‐targeting precision medicine approaches considering the genetic variants and pathomechanisms in DEEs and on the other hand including therapeutic approaches with novel targets or second‐generation drug candidates ...
Heidrun Potschka, Daniel Pérez‐Pérez
wiley   +1 more source