Publications by authors named "Rohini K Coorg"
Article Synopsis
- SCN2A gene-related early-infantile developmental and epileptic encephalopathy (EI-DEE) is a serious rare disorder caused by mutations affecting the Nav1.2 sodium channel, leading to abnormal neuronal activity in infants.
- The study examined seven specific mutations of the Nav1.2 channel, using techniques like molecular dynamics and electrophysiology, to understand how these mutations impact fast inactivation of the channel.
- Notably, the N1662D mutation severely hinders fast inactivation, highlighting the importance of interactions between amino acids N1662 and Q1494, while other mutations showed varying effects on channel function, including some that enhanced neuronal excitability.
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. Affected patients most commonly exhibit some or all of the following: neonatal hypotonia, developmental impairment, facial dysmorphic features, and congenital malformations.
View Article and Find Full Text PDFA potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopmental disorders and generalized epilepsy. One variant occurred in two sibs of healthy parents with presumed somatic mosaicism, another segregated with the disease in three affected family members, and the remaining five occurred de novo in sporadic patients.
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