Widening phenotypic spectrum of GABBR2 mutation
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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, 2, 3, 4, 5, 6, 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.
A 5-year-old boy was evaluated in the Neurology clinic with a 1-year history of intermittent episodes of inattention, staring, unresponsiveness, and rhythmic eye blinking. These episodes lasted for only a few seconds but occurred multiple times daily with no postictal behavioral or mental alteration. He never had any convulsions. He was born full-term following an uncomplicated pregnancy and delivery. Parents were nonconsanguineous. There was no family history of...
KeywordsGABBR2 Epileptic encephalopathy Rett-like phenotype Absence seizure Intellectual impairment
DS wrote the first draft of the manuscript. YAZ evaluated the patient, provided genetic counseling to the family, and approved the final manuscript as submitted.
The authors received no financial support for the research, authorship, and/or publication of this article.
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Conflict of interest
The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.