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July 11, 2023Frontiers in Molecular NeuroscienceOpen Access

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy

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Why the study?

To examine the relationships between genotype and phenotype in KCNQ2-related developmental and epileptic encephalopathy.

Population

12 patients enrolled for genetic testing, clinical analysis, and developmental evaluation

Design

Observational clinical and functional characterization study

Authors

JYJia YeSTSiyang TangPMPu Miao

Discussion

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Overview

Small KCNQ2-DEE cohort data suggest variant-phenotype links; leaves open validation before guiding management.

Structured PICO

P
Population
12 patients with KCNQ2-related developmental and epileptic encephalopathy (DEE) or self-limited neonatal epilepsy (SeLNE), and Chinese hamster ovary (CHO) cells for in vitro electrophysiological recording.
I
Intervention
Genetic testing, clinical analysis, developmental evaluation, and whole-cell electrophysiological recording of KCNQ2 variants.
O
Outcome
Genotype-phenotype relationships, specifically the functional impact of KCNQ2 variants on M-currents.surrogate

The severity of developmental disorders in KCNQ2-related DEE correlates with the degree of M-current reduction caused by dominant-negative effects of the variants in heteromeric KCNQ2/3 channels.

Cite This Study

Ye et al. (2023) studied this question.

synapsesocial.com/papers/6a8bb2dde6afc07dcbf45841https://doi.org/10.3389/fnmol.2023.1205265
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Also Consider

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  1. 1Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy2024 · 6 citations
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  4. 4Electrophysiological signatures of a developmental delay in a stem cell model of<i>KCNQ2</i>developmental and epileptic encephalopathy2024 · 2 citations
  5. 5<i>KCNQ2</i>‐DEE: developmental or epileptic encephalopathy?2021 · 50 citations