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This research investigates the relationship between KCNQ2 gene variants and neurodevelopmental features in KCNQ2-related epilepsy.

November 18, 2025Epilepsia OpenOpen Access

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with K V 7 .2 dysfunction

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Authors

JBJessa S. Bidwell CVCarlos G. Vanoye RDReshma R. Desai

Discussion

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Overview

Parent-reported survey shows slight worsening in mobility and scoliosis in children with KCNQ2 variants, indicating need for broader evaluation of factors affecting outcomes.

Key Points

This research investigates the relationship between KCNQ2 gene variants and neurodevelopmental features in KCNQ2-related epilepsy.
Parent-reported surveys collected data on clinical features and genetic variants in individuals with KCNQ2-DEE.
Clinical features were assessed separately and as a composite severity score including mobility and scoliosis.
Voltage-clamp recordings measured the functional effects of K V 7.2 variants in heterologous cells.
48 individuals with KCNQ2 variant dysfunction were analyzed; the median seizure onset age was 1 day.
Severe loss of function variants were associated with slightly worse non-seizure phenotype severity scores.
A modest correlation was noted between K V 7.2 dysfunction and overall neurodevelopmental impairments.

Cite This Study

Bidwell et al. (2025) studied this question.

synapsesocial.com/papers/6924feebc0ce034ddc35190e https://doi.org/10.1002/epi4.70192

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November 18, 2025Epilepsia OpenOpen Access

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with K V 7 .2 dysfunction

View Full Paper

Ask AI

Bookmark

Authors

JBJessa S. Bidwell CVCarlos G. Vanoye RDReshma R. Desai

Discussion

Member takes

Overview

Parent-reported survey shows slight worsening in mobility and scoliosis in children with KCNQ2 variants, indicating need for broader evaluation of factors affecting outcomes.

Key Points

This research investigates the relationship between KCNQ2 gene variants and neurodevelopmental features in KCNQ2-related epilepsy.
Parent-reported surveys collected data on clinical features and genetic variants in individuals with KCNQ2-DEE.
Clinical features were assessed separately and as a composite severity score including mobility and scoliosis.
Voltage-clamp recordings measured the functional effects of K V 7.2 variants in heterologous cells.
48 individuals with KCNQ2 variant dysfunction were analyzed; the median seizure onset age was 1 day.
Severe loss of function variants were associated with slightly worse non-seizure phenotype severity scores.
A modest correlation was noted between K V 7.2 dysfunction and overall neurodevelopmental impairments.

Cite This Study

Bidwell et al. (2025) studied this question.

synapsesocial.com/papers/6924feebc0ce034ddc35190e https://doi.org/10.1002/epi4.70192

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