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01-09-2019 | Electroencephalography | Letter to the Editor

Widening phenotypic spectrum of GABBR2 mutation

Authors: Debopam Samanta, Yuri A. Zarate

Published in: Acta Neurologica Belgica | Issue 3/2019

Excerpt

Pathogenic GABAB receptor R2 (GABBR2) mutations were described recently in patients with epileptic encephalopathy and Rett syndrome-like phenotype (Early infantile epileptic encephalopathy 59, MIM#617904) [1‐7]. Here, we report a child with absence epilepsy and mild developmental delay who has a GABBR2 likely pathogenic variant. We further reviewed all electroclinical data of previously published cases to determine the phenotypic spectrum and genotype–phenotype association. …

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Title: Widening phenotypic spectrum of GABBR2 mutation
Authors: Debopam Samanta
Yuri A. Zarate
Publication date: 01-09-2019
Publisher: Springer International Publishing
Keywords: Electroencephalography
Epilepsy
Encephalopathy
Absence Seizure
Published in: Acta Neurologica Belgica / Issue 3/2019
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-019-01088-5

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Widening phenotypic spectrum of GABBR2 mutation

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