Results 111 to 120 of about 5,101 (164)

Navigating the complexities of dual CNV findings: a case of DEE7 caused by a <i>de novo KCNQ2</i> deletion and a Co-occurring chromosome 13 duplication - a case report and literature review. [PDF]

Front Pediatr
Qi Y, Lin S, Zhou Y, Chen Y, Feng X, Jiang K, Feng J.   +6 more
europepmc   +1 more source

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity. [PDF]

Epilepsia Open
Jadhav T, Bouffler SE, Innes E, Fahey M, Hunter M, Kothur K, Lunke S, Lynch M, Macdonald-Laurs E, Palmer EE, Patel C, Pinner J, Riney K, Sachdev R, Sandaradura SA, Scheffer IE, Stark Z, Howell KB.   +17 more
europepmc   +1 more source

<i>KCNQ2</i> Variants in Neonatal Epilepsy: Clinical Characteristics and Neurodevelopmental Outcomes in 30 Patients. [PDF]

Neurol Genet
Li Y, Li J, Li L, Zhang H, Sun X.
europepmc   +1 more source

Coupling of functionality to trafficking of KCNQ2/3 potassium channels at the axon initial segment. [PDF]

Proc Natl Acad Sci U S A
Yoshioka D, Okamura Y.
europepmc   +1 more source

Structural and kinetic mechanisms of state-dependent potassium channel inhibition. [PDF]

Sci Adv
Kyriakis E, Roscioni A, Eldstrom J, Sastre D, Dou Y, Taddei A, Molinarolo S, Tian M, Maragliano L, Van Petegem F, Fedida D.   +10 more
europepmc   +1 more source

Chemical and genetic knockout identifies KCNQ2 as the principal background voltage-gated potassium current in human embryonic kidney 293 cells. [PDF]

Heart Rhythm
O'Neill MJ, Yang T, Wada Y, Blair MA, Glazer AM.   +4 more
europepmc   +1 more source

Biochemical and Immunohistochemical Associations of TDP-43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease. [PDF]

Ann Neurol
Youssef H, Gatto RG, Ghayal NB, Estades Ayuso V, Jansen-West KR, Dunmore JA, Song Y, Yue M, Cook CN, DeTure M, Rawlinson BD, Castanedes-Casey M, Jack CR, Petersen RC, Dickson DW, Petrucelli L, Whitwell JL, Prudencio M, Josephs KA.   +18 more
europepmc   +1 more source

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study. [PDF]

Genes (Basel)
Loukas YL, Anagnostopoulou K, Thodi G, Spanou M, Gavalas C, Molou E, Antonopoulou S, Poulopoulou A, Dotsikas Y, Alvanou M, Tegopoulos K, Pons R, Tziouvas K, Vartzelis G, Skouteli E, Loukatou E, Charitou A, Douros K, Siahanidou S, Giorgi M, Stephanede A, Angeli M, Nikolaidou M, Kokkinou E, Kouri I, Koute V, Frysira E, Dinopoulos A.   +27 more
europepmc   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy. [PDF]

Dev Med Child Neurol
Maclaine G, Potashman MH, Pawar D, Sharma S, Rudell K, Lerner J, Coric V, Berg AT, Millichap J, L'Italien G.   +9 more
europepmc   +1 more source

Ion-Channel-Mediated Drug Repurposing Opportunities Validated by Single-Cell Perturbation in Colorectal Cancer. [PDF]

Int J Mol Sci
Dong Z, Meng X, Wang L.
europepmc   +1 more source