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^*

^*Corresponding author for this work

Filadelfia

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

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

Keywords

Drug Resistant Epilepsy/genetics
Epilepsy/complications
Gain of Function Mutation
Humans
Phenotype
Receptors, GABA-A/genetics

Access to Document

10.1111/epi.17358

Cite this

@article{6fc9d3ae98c841a3a28ba1983ad43dc2,

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

keywords = "Drug Resistant Epilepsy/genetics, Epilepsy/complications, Gain of Function Mutation, Humans, Phenotype, Receptors, GABA-A/genetics",

author = "Ahring, \{Philip K\} and Liao, \{Vivian W Y\} and Susan Lin and Absalom, \{Nathan L\} and Mary Chebib and M{\o}ller, \{Rikke S\}",

year = "2022",

month = sep,

doi = "10.1111/epi.17358",

language = "English",

volume = "63",

pages = "2439--2441",

journal = "Epilepsia",

issn = "0013-9580",

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T1 - The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits

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

Y1 - 2022/9

KW - Drug Resistant Epilepsy/genetics

KW - Epilepsy/complications

KW - Gain of Function Mutation

KW - Humans

KW - Phenotype

KW - Receptors, GABA-A/genetics

U2 - 10.1111/epi.17358

DO - 10.1111/epi.17358

M3 - Letter

C2 - 35781801

SN - 0013-9580

VL - 63

SP - 2439

EP - 2441

JO - Epilepsia

JF - Epilepsia

IS - 9

ER -