Results 61 to 70 of about 142,677 (240)

Longer Duration of Epilepsy and Earlier Age at Epilepsy Onset Correlate with Impaired Cognitive Development in Infancy [PDF]

, 2009
We assessed the impact of age at onset of epilepsy and duration and frequency of seizures on cognitive development in children less than 3 years old. Retrospective analysis was conducted on clinical data and neuropsychological testing of 33 infants with ...
Vendrame, Martina
core   +2 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Microglial GPR35 Ameliorates Epileptogenesis and Neuroinflammation via PDGFA Domain 2 Signaling

Advanced Science, EarlyView.
Activation of microglial G protein–coupled receptor 35 (GPR35) by L‐kynurenic acid (L‐Kyna) initiates a platelet‐derived growth factor A (PDGFA)–dependent phosphoinositide 3‐kinase–protein kinase B (PI3K–AKT) signaling cascade that dampens hippocampal neuroinflammation, thereby restraining epileptogenesis, lowering seizure susceptibility, and ...
Qi Wang, Tingting Qu, Qibing Sun, Ran Li, Junfei Dong, Yuming Du, Ziyin Xuan, Lei Wang, Hanli Li, Jianyun Sun, Fangliang Chen, Jinshuai Liu, Zifan Yang, Jianxiang Lei, Qian Yang, Bin Wang, Zhiming Zhou, Yu Wang   +17 more
wiley   +1 more source

Scalp EEG interictal high frequency oscillations as an objective biomarker of infantile spasms

Clinical Neurophysiology, 2020
Objective To investigate the diagnostic utility of high frequency oscillations (HFOs) via scalp electroencephalogram (EEG) in infantile spasms. Methods We retrospectively analyzed interictal slow-wave sleep EEGs sampled at 2,000 Hz recorded from 30 ...
H. Nariai, Shaun A. Hussain, Danilo Bernardo, Hirotaka Motoi, Masaki Sonoda, N. Kuroda, E. Asano, Jimmy C. Nguyen, D. Elashoff, R. Sankar, A. Bragin, R. Staba, Joyce Y. Wu   +12 more
semanticscholar   +1 more source

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]

, 2018
FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R., Burrage, Lindsay C., Craigen, William J., Emrick, Lisa, Freeze, Hudson H., Graham, Brett H., Jain, Mahim, Lee, Brendan, Ng, Bobby G., Rosenfeld, Jill A.   +9 more
core   +1 more source

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. [PDF]

PLoS ONE, 2018
Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical ...
Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, Russell P Saneto, Elaine C Wirrell, Jason Coryell, Catherine J Chu, John R Mytinger, William D Gaillard, Ignacio Valencia, Kelly G Knupp, Tobias Loddenkemper, Joseph E Sullivan, Annapurna Poduri, John J Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B Dobyns, Madhuri Hegde   +21 more
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Epileptic spasms relapse is associated with response latency but not conventional attributes of post‐treatment EEG

Epilepsia Open
Objective Relapse of epileptic spasms after initial treatment of infantile epileptic spasms syndrome (IESS) is common. However, past studies of small cohorts have inconsistently linked relapse risk to etiology, treatment modality, and EEG features upon ...
Emmi Deckard, Rujuta Sathe, David Tabibzadeh, Aria Terango, Aran Groves, Rajsekar R. Rajaraman, Hiroki Nariai, Shaun A. Hussain   +7 more
doaj   +1 more source

X-Linked Infantile Spasms

Pediatric Neurology Briefs, 1997
Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp ...
J Gordon Millichap
doaj   +1 more source