References in periodicals archive ?
Peripheral nerve hyperexcitability due to dominant negative KCNQ2 mutations Neurology 2007; 69(22): 2045-53.
Gene mutation is considered to be responsible for agnogenic EOEEs. With the extensive application of next-generation sequencing (NGS) and whole exome sequencing, EOEE-related gene panels make for early and efficient diagnosis of EOEE patients and also help detecting more EOEE susceptibility genes. STXBP1, ARX, SLC25A22, and KCNQ2 are some of the susceptibility genes for OS, while CDKL5, ALG13, and SCN1A are considered to be responsible for WS.
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
"We are tremendously grateful to the Tony for his generous support for our efforts to help patients throughout the world affected by KCNQ2 encephalopathy," said Jim Johnson, President of KCNQ2 Cure Alliance.
The GSK3-dependent phosphorylation of the voltage-gated potassium channel KCNQ2 results in a reduced channel activity .
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the $4 region of KCNQ2 causing benign familial neonatal convulsions.
We anticipate testing this new formulation in healthy adult volunteers, prior to filing an IND application in order to initiate a Phase 3 clinical trial in patients with KCNQ2 developmental and epileptic encephalopathy.
M2 PHARMA-January 3, 2019-Knopp Biosciences Enters Research Collaboration with Baylor College of Medicine to Develop New Treatments for KCNQ2 Neonatal Encephalopathy
Denver, CO, October 14, 2015 --(PR.com)-- The summit enables KCNQ2 families to connect and to meet top medical researchers.
Its preclinical platform is directed to small molecule treatments for neonatal epileptic encephalopathy, a devastating brain disorder of infants caused by a rare mutation in the KCNQ2 gene.
M2 PHARMA-December 6, 2017-Pairnomix and KCNQ2 Cure Alliance Present Data from Drug Screening in Cellular Model of KCNQ2 Epileptic Encephalopathy at AES Annual Meeting
M2 PHARMA-October 24, 2017-Pairnomix to Present Data from Gain-of-Function Case Study at 2017 KCNQ2 CURE Alliance Summit
The company's preclinical platform is directed to small molecule treatments for neonatal epileptic encephalopathy, a devastating brain disorder of infants caused by a rare mutation in the KCNQ2 gene.
Scientists also identified the deleterious mutations variants in four novel, nine known, and eight candidate autism risk genes, including CAPRIN1 and AFF2 (both linked to FMR1 involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (also linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.
Thesaurus browser ?
- Kavir Desert
- Kaw River
- Kawasaki disease
- Kay Boyle
- Kayser-Fleischer ring
- Kazakhstani monetary unit
- Kazimir Malevich
- Kazimir Severinovich Malevich
- K-Dur 20
- keel arch
- keel over
- keeled garlic
- keep abreast
Full browser ?
- KCNE1 gene
- KCNQ1 opposite strand/antisense transcript 1
- KCNQ1 overlapping transcript 1
- KCNQ2 benign neonatal benign familial neonatal seizures