Familial Occipital Lobe Epilepsy Associated with GABAA Receptor Variants.

Childhood occipital visual epilepsy (COVE), formerly called idiopathic childhood occipital epilepsy-Gastaut type, is a rare epilepsy syndrome that begins in later childhood [ [1] Specchio N. Wirrell E.C. Scheffer I.E. et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1398-1442 Crossref PubMed Scopus (174) Google Scholar ]. This syndrome is characterized by frequent brief focal aware sensory seizures with visual phenomena during wakefulness, often followed by headache with migraine-like features [ [1] Specchio N. Wirrell E.C. Scheffer I.E. et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1398-1442 Crossref PubMed Scopus (174) Google Scholar ]. Photosensitive occipital lobe epilepsy (POLE), previously included in Gastaut syndrome, is characterized by photic-induced focal aware seizures with visual phenomena [ [1] Specchio N. Wirrell E.C. Scheffer I.E. et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1398-1442 Crossref PubMed Scopus (174) Google Scholar ]. COVE and POLE are self-limited in the majority of patients; however, a few patients may experience seizures after adolescence. These syndromes have a presumed complex genetic etiology, supported by the higher incidence of a positive family history of epilepsy and age-dependent focal electroencephalogram (EEG) abnormalities [ [1] Specchio N. Wirrell E.C. Scheffer I.E. et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1398-1442 Crossref PubMed Scopus (174) Google Scholar ]. Familial cases of COVE/POLE appear to be rare, with only few families reported in the literature [ [2] Grosso S. Vivarelli R. Gobbi G. Di Bartolo R. Berardi R. Balestri P Late-onset childhood occipital epilepsy (Gastaut type): a family study. Eur J Paediatr Neurol. 2008; 12: 421-426 Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar ]. No gene implicated in COVE/POLE etiopathogenesis has been described so far.