An intragenic deletion in the proband of Italian family F and his affected mother was identified at 5q34 spanning 145K at chr5, 160.631.665–161.067.144, and affecting coding exons 1–4 of GABRG2. The proband (F/II-1) was an 8-year-old boy who had recurrent episodes of simple FS between ages 12 and 36 months, which remitted spontaneously. From age 5 years, he developed absence seizures and 2 GTCS, successfully treated with valproate. His mother (F/I-1) had 4 episodes of simple FS during her first 2 years of life. Both individuals had normal cognition. No additional affected relatives were reported.
