Key result
Whole exome sequencing identified a recurrent de novo p.(Val471Leu) variant in the KCNC2 gene in a 2-year-old girl with severe developmental and epileptic encephalopathy.
Case Report (n=1)
The identification of a recurrent de novo p.(Val471Leu) variant in KCNC2 in a patient with severe DEE further supports KCNC2 as a novel DEE-associated gene.
Supports KCNC2 as candidate DEE gene; leaves open need for validation before clinical adoption.
Developmental and epileptic encephalopathies (DEE) are a heterogenous group of conditions characterized by the co-occurrence of epilepsy and intellectual/developmental disability. Despite several known DEE-related genes, including these encoding ion channels, still many cases remain without molecular diagnosis. Here, we present a 2-year-old girl with severe DEE in whom whole exome sequencing revealed de novo p.(Val471Leu) variant in the KCNC2 encoding Kv3.2, a voltage-gated potassium channel. To the best of our knowledge, this is the third DEE case due to KCNC2 mutation. Our clinical and molecular findings, particularly the recurrence of p.(Val471Leu) in patient with similar clinical phenotype, further support KCNC2 as a novel DEE-associated gene.
No takes yet. Share an insight, caveat, or question.
Rydzanicz et al. (2021) conducted a case report in Developmental and epileptic encephalopathies (DEE) (n=1). KCNC2 p.(Val471Leu) variant was evaluated on Identification of genetic variant. Whole exome sequencing identified a recurrent de novo p.(Val471Leu) variant in the KCNC2 gene in a 2-year-old girl with severe developmental and epileptic encephalopathy.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: