Olivotto Sara, Freddi Anna, Lavatelli Rossella, Basso Eleonora, Leidi Alessia, Castellotti Barbara, Spaccini Luigina, Bova Stefania Maria, Veggiotti Pierangelo
Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, Italy.
University of Milan, Milan, Italy.
Epilepsy Behav Rep. 2022 Apr 20;19:100544. doi: 10.1016/j.ebr.2022.100544. eCollection 2022.
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.
γ-氨基丁酸A型受体α1亚基（GABRA1）的致病变异是一种蛋白质编码基因，与多种癫痫的广泛表型谱相关。这些癫痫从轻度全身性发作形式到早发性严重癫痫性脑病不等。在轻度和重度形式中，伴有全身性棘波和慢波放电以及光阵发性反应的强直阵挛性发作和肌阵挛发作都是常见的临床表现。我们报告了一名14岁女孩的病例，她因癫痫控制不佳转诊至我们的诊所。发现她携带GABRA1基因的杂合变异（c.335G>A），该变异已在文献中报道，并根据ACMG指南分类为“致病”。该患者表现出严重的耐药性，癫痫发作常由光刺激诱发。吡仑帕奈治疗的引入导致局灶性和全身性肌阵挛发作总体减少，光触发发作完全得到临床控制。据我们所知，这是吡仑帕奈治疗光敏性癫痫有效性的首次报告，特别是在存在GABRA1变异的情况下。需要新的证据来证实我们在该病例中的发现。
