Objective Pathogenic variants in KCNB1, encoding the voltage‐gated potassium channel K
V 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous …

Genetic variants in SCN2A, encoding the Na V 1.2 voltage-gated sodium channel, are
associated with a range of neurodevelopmental disorders with overlapping phenotypes. Some …

Pathogenic variants in SCN2A are associated with a range of neurodevelopmental
disorders (NDD). SCN2A-related NDD show wide phenotypic heterogeneity, suggesting that …

Pathogenic variants in KCNB1 are associated with a neurodevelopmental disorder
spectrum that includes global developmental delays, cognitive impairment, abnormal …

Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel Kv2.1, are
associated with developmental and epileptic encephalopathies (DEE). Previous functional …

Pathogenic variants in SCN2A are associated with a range of neurodevelopmental
disorders (NDD). Despite being largely monogenic, SCN2A-related NDD show considerable …

Recently, we demonstrated that Scn2a K1422E female mice showed a distinct distribution
of flurothyl-induced seizure thresholds. To evaluate whether the estrous cycle contributes to …

SCN2A encodes the NaV1. 2 voltage-gated sodium channel, which is thought to contribute
to the development of the central nervous system. Pathogenic variants in SCN2A have been …

" Current trends in defense thinking show signs of being influenced by the notion that
preparing for one form of war has brought about another. We find evidence of this notion in a …

The aquaporins are a family of water channels expressed in several water-transporting
tissues, including the kidney. We have used a peptide-derived, affinity-purified polyclonal …