The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits

Philip K. Ahring; Vivian W. Y. Liao; Susan Lin; Nathan L. Absalom; Mary Chebib; Rikke S. Møller

doi:10.1111/epi.17358

The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits

Philip K. Ahring, Vivian W. Y. Liao, Susan Lin, Nathan L. Absalom, Mary Chebib, Rikke S. Møller

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

Overall, our observations complement the study by Vogel et al.1 and highlight an important role for gain-of-function extrasynaptic receptors in the etiology of epilepsy and neurodevelopmental disorders. The challenge now is to accumulate enough variants in the GABRA4 and GARBD genes to robustly define the clinical phenotype that is associated with distinct functional changes in each gene.

Original language	English
Pages (from-to)	2439-2441
Number of pages	3
Journal	Epilepsia
Volume	63
Issue number	9
DOIs	https://doi.org/10.1111/epi.17358
Publication status	Published - Sept 2022

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abstract = "Overall, our observations complement the study by Vogel et al.1 and highlight an important role for gain-of-function extrasynaptic receptors in the etiology of epilepsy and neurodevelopmental disorders. The challenge now is to accumulate enough variants in the GABRA4 and GARBD genes to robustly define the clinical phenotype that is associated with distinct functional changes in each gene.",

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AU - Ahring, Philip K.

AU - Liao, Vivian W. Y.

AU - Lin, Susan

AU - Absalom, Nathan L.

AU - Chebib, Mary

AU - Møller, Rikke S.

PY - 2022/9

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N2 - Overall, our observations complement the study by Vogel et al.1 and highlight an important role for gain-of-function extrasynaptic receptors in the etiology of epilepsy and neurodevelopmental disorders. The challenge now is to accumulate enough variants in the GABRA4 and GARBD genes to robustly define the clinical phenotype that is associated with distinct functional changes in each gene.

AB - Overall, our observations complement the study by Vogel et al.1 and highlight an important role for gain-of-function extrasynaptic receptors in the etiology of epilepsy and neurodevelopmental disorders. The challenge now is to accumulate enough variants in the GABRA4 and GARBD genes to robustly define the clinical phenotype that is associated with distinct functional changes in each gene.

UR - https://hdl.handle.net/1959.7/uws:74057

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DO - 10.1111/epi.17358

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SN - 1528-1167

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JF - Epilepsia

IS - 9

ER -

The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits

Abstract

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