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Background: Dominant, heterozygous mutations in the GABRA1 gene on chromosome 5q34 cause a heterogeneous, constantly growing group of neurological disorders. Aim: The aim of the study was to report on an individual with profound psychomotor retardation, extrapyramidal symptoms and epilepsy due to a new mutation in GABRA1 gene (c.799C>A). Material and Methods: The child with unremarkable family and perinatal history, fetal and perinatal primary microcephaly, delayed psychomotor development in a profound degree as well as with impaired global physical development and a failure to thrive. From the first months of life dyskinesias, bruxism, upward eye deviation and oropharyngeal movements were present. However, on sleep EEG generalized spike and wave discharges were present. Whole-exome sequencing (WES) was carried out in the proband. Results: WES results detected disease-causing novel mutation in the GABRA1 gene, the first case in the Polish population. Conclusions: Our observation expands the spectrum of syndromes of EIEE19 associated with GABRA1 gene mutations. This mutation (c.799 C>A) has not been described previously in the literature.

An early infantile epileptic encephalopathy 19 with dyskinesias due to a new GABRA1 gene mutation – identification of the first case in the Polish population