Results 51 to 60 of about 15,708 (241)

Developmental and epileptic encephalopathy type 96 caused by de novo variation in NSF gene: one case report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To explore the clinical and molecular genetic characteristics of developmental and epileptic encephalopathy type 96 (DEE96) caused by de novo variation in NSF gene.
XU Jia-xuan, TANG Han-lin, KONG Qing-xia, LI Qiu-bo, JIANG Xiu-fang   +4 more
doaj   +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 de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

, 2020
An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1.
Freri E., Cali F., Amato C., Vetri L., Granata T., Solazzi R., Romano V., Vinci M., Roccella M., Elia M.   +9 more
core   +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

Severe KCNT1-related developmental and epileptic encephalopathy

Эпилепсия и пароксизмальные состояния
Developmental and epileptic encephalopathy (DEE) caused by a mutation in the KCNT1 gene (KCNT1-DEE) is registered in the Online Mendelian Inheritance in Man (OMIM) catalogue inder code number 614959.
A. G. Malov, L. Yu. Brokhin, A. V. Veselkova   +2 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

STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy

, 2023
Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking.
Galati Rando R., Treccarichi S., Saccone S., Costanza C., Cali F., Vetri L., Vinci M., Roccella M., Carotenuto M., Elia M.   +9 more
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source