Results 51 to 60 of about 118,836 (248)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Peculiarities of Clinical Course Without Several Form of Epileptic Encephalopathy in Preschool Children

, 2022
Epileptic encephalopathy is a condition when a pathological altered brain electrogenesis is the cause of impaired brain function [5,6]. The epileptic process leads to progressive impairment of brain functions. According to the literature, these disorders
Vafoeva G.R., Saidkhodzhaeva S.N.
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators

Angewandte Chemie, EarlyView.
The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia, Giusy Carleo, Zhenni Yang, Francesca Di Matteo, Federica De Rosa, Gerardina Smaldone, Zhao‐Bing Gao, Marco D'Alì, Rita Turcio, Demin Ma, Veronica Di Sarno, Nannan Su, Salvatore Vincenzo Giofrè, Giacomo Pepe, Pietro Campiglia, Alessia Bertamino, Francesco Miceli, Jiangtao Guo, Nunzio Iraci, Carmine Ostacolo, Maurizio Taglialatela   +20 more
wiley   +2 more sources

A case of early epileptic encephalopathy caused by new mutation at W218C in KCNQ2 and review literature

Biochemistry and Biophysics Reports
Early-onset epileptic encephalopathy (EOEE) is mainly characterized by early refractory epileptic seizures in infants with progressive brain dysfunction, accompanied by complex causes (such as perinatal brain injury, structural brain malformations and ...
Juhua Yang, Yuping Huang, Zhijun Chen, Jiaheng Peng, Kangyu Li, Lijuan Huang, Jie Yang, Chunhui Yang   +7 more
doaj   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy

Journal of the Formosan Medical Association, 2012
Epileptic encephalopathy with suppression-burst in electroencephalography (EEG) can evolve into a few types of epileptic syndromes. We present here an unusual case of early myoclonic encephalopathy that evolved into migrating partial seizures in infancy.
Yin-Hsuan Chien, Ming-I. Lin, Wen-Chin Weng, Jung-Chieh Du, Wang-Tso Lee   +4 more
doaj   +1 more source

Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu, Sophia F. Damman, Samhitha M. Rai, Hesham Abboud   +3 more
wiley   +1 more source

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene

The Turkish Journal of Pediatrics, 2015
Cyclin-dependent kinase-like 5 gene-related epileptic encephalopathy is gradually becoming better known in child neurology practice. The related gene mutations cause early infantile epileptic encephalopathy characterized by intractable epilepsy ...
Sarenur Gökben, Gül Serdaroğlu, Sanem Yılmaz, Thierry Bienvenu, Serdar Ceylaner   +4 more
doaj  

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report

BMC Pediatrics, 2021
Background N-methyl-D-aspartate (NMDA) receptors are ligand-gated ion channels that mediate excitatory synaptic transmission in the central nervous system.
Jiancheng Jiao, Li Li, Min Sun, Junchen Fang, Lingzhi Meng, Yudong Zhang, Chao Jia, Li Ma   +7 more
doaj   +1 more source