KCNQ2 encephalopathy: A case due to a de novo deletion
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.06.008
Abstract: KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltage gated potassium channel Kv7.2 and leading to a… read more here.
Keywords: case due; kcnq2 encephalopathy; novo deletion; deletion ... See more keywords
Two KCNQ2 Encephalopathy Variants in the Calmodulin-Binding Helix A Exhibit Dominant-Negative Effects and Altered PIP2 Interaction
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2020.571813
Abstract: Heterozygous missense variants in KCNQ2, which encodes the potassium channel subunit Kv7.2, are among the most common genetic causes of severe neonatal-onset epileptic encephalopathy. Because about 20% of known severe Kv7.2 missense changes lie within… read more here.
Keywords: two kcnq2; kcnq2 encephalopathy; binding helix; kv7 ... See more keywords
KCNQ2 Encephalopathy and Effect of Early Treatment on the Clinical Phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_335_21
Abstract: Mutations in the KCNQ2 gene that encodes for a voltage‐dependent potassium channel subunit 7.2 (kv 7.2) are associated with a wide clinical spectrum ranging from milder variants such as benign familial neonatal seizures to a… read more here.
Keywords: kcnq2 encephalopathy; encephalopathy effect; effect early; treatment clinical ... See more keywords
Bone Mineral Density and Body Composition in Males with Motor Neuron Disease: A Study from Teaching Hospital in Southern Part of India
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_386_21
Abstract: 1. Spagnoli C, Salerno GG, Iodice A, Frattini D, Pisani F, Fusco C. KCNQ2 encephalopathy: A case due to a de novo deletion. Brain Dev 2018;40:65‐8. 2. Pisano T, Numis AL, Heavin SB, Weckhuysen S,… read more here.
Keywords: mineral density; kcnq2 encephalopathy; body composition; kcnq2 ... See more keywords