Although abundant new information has emerged in the last decade(s) on the management of women with epilepsy (WWE), whether said knowledge has reached clinical practice remains largely unknown.We assessed knowledge of this matter among primary care and specialist doctors in Estonia. This study was conducted via an online questionnaire, which was used to explore healthcare specialists' awareness in five domains: pre-pregnancy counseling, contraception, side effects of antiseizure medications (ASMs), and the management of epilepsy during pregnancy and in the peri- and postpartum periods. The survey response rate was low - 8.14%. Knowledge of epilepsy management in WWEwas inconsistent among different medical specialists. The median numbers of correctly answered questions among gynecologists, neurologists, and general practitioners were 7, 6.5, and 3 of 10, respectively. Gynecologists were more informed about appropriate contraceptive methods. Neurologists were more familiar with ASM side effects. General practitioners' knowledge level for this topic was low. Surprisingly, only 30.8% of general practitioners were aware of the high teratogenic potential of valproate. We observed significant knowledge gaps regarding the optimal treatment of WWEof reproductive age. To improve epilepsy management, doctors' awareness of treatment considerations for this patient group needs to be increased.

Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G>A) in GABRA1, already described in the literature and classified as "pathogenic" according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures. To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case.