OBJECTIVE: To use family studies to investigate the clinical genetics of photosensitivity to understand the interrelationship of different photosensitive epilepsy syndromes. METHODS: Twenty-nine families were recruited in which at least 2 members had idiopathic epilepsy and either clinical or electrical photosensitivity on EEG studies. We performed electroclinical analysis of these individuals and all other affected family members and analyzed the phenotypic patterns in families. RESULTS: An earlier age at seizure onset was observed in photosensitive patients compared with nonphotosensitive individuals. A significant female bias for photosensitivity was confirmed. All subjects with visual seizures were photosensitive. Subjects could be classified into 3 main photosensitive phenotypes: genetic (idiopathic) generalized epilepsies (GGE), idiopathic photosensitive occipital epilepsy (IPOE), and mixed GGE/IPOE. Within each category, subjects with purely photosensitive seizures were observed. We report a distinctive syndrome of early-onset photosensitive absence epilepsy, with onset beginning by 4 years of age, which was more refractory than childhood absence epilepsy. CONCLUSIONS: The clinical genetics of the idiopathic photosensitive epilepsies show a phenotypic spectrum from the GGEs to IPOE with overlap between the focal features of IPOE and all the GGE syndromes. Shared genetic determinants are likely to contribute to the complex inheritance pattern of photosensitivity, IPOE, and the GGEs.
OBJECTIVE: To use family studies to investigate the clinical genetics of photosensitivity to understand the interrelationship of different photosensitive epilepsy syndromes. METHODS: Twenty-nine families were recruited in which at least 2 members had idiopathic epilepsy and either clinical or electrical photosensitivity on EEG studies. We performed electroclinical analysis of these individuals and all other affected family members and analyzed the phenotypic patterns in families. RESULTS: An earlier age at seizure onset was observed in photosensitive patients compared with nonphotosensitive individuals. A significant female bias for photosensitivity was confirmed. All subjects with visual seizures were photosensitive. Subjects could be classified into 3 main photosensitive phenotypes: genetic (idiopathic) generalized epilepsies (GGE), idiopathic photosensitive occipital epilepsy (IPOE), and mixed GGE/IPOE. Within each category, subjects with purely photosensitive seizures were observed. We report a distinctive syndrome of early-onset photosensitive absence epilepsy, with onset beginning by 4 years of age, which was more refractory than childhood absence epilepsy. CONCLUSIONS: The clinical genetics of the idiopathic photosensitive epilepsies show a phenotypic spectrum from the GGEs to IPOE with overlap between the focal features of IPOE and all the GGE syndromes. Shared genetic determinants are likely to contribute to the complex inheritance pattern of photosensitivity, IPOE, and the GGEs.
Authors: Lynette G Sadleir; Guillem de Valles-Ibáñez; Chontelle King; Matthew Coleman; Stuart Mossman; Sarah Paterson; John Nguyen; Samuel F Berkovic; Saul Mullen; Melanie Bahlo; Michael S Hildebrand; Heather C Mefford; Ingrid E Scheffer Journal: Epilepsia Date: 2020-03-12 Impact factor: 5.864
Authors: Lata Vadlamudi; Roger L Milne; Kate Lawrence; Sarah E Heron; Jazmin Eckhaus; Deborah Keay; Mary Connellan; Yvonne Torn-Broers; R Anne Howell; John C Mulley; Ingrid E Scheffer; Leanne M Dibbens; John L Hopper; Samuel F Berkovic Journal: Neurology Date: 2014-08-08 Impact factor: 9.910
Authors: Zaid Afawi; Karen L Oliver; Sara Kivity; Aziz Mazarib; Ilan Blatt; Miriam Y Neufeld; Katherine L Helbig; Hadassa Goldberg-Stern; Adel J Misk; Rachel Straussberg; Simri Walid; Muhammad Mahajnah; Tally Lerman-Sagie; Bruria Ben-Zeev; Esther Kahana; Rafik Masalha; Uri Kramer; Dana Ekstein; Zamir Shorer; Robyn H Wallace; Marie Mangelsdorf; James N MacPherson; Gemma L Carvill; Heather C Mefford; Graeme D Jackson; Ingrid E Scheffer; Melanie Bahlo; Jozef Gecz; Sarah E Heron; Mark Corbett; John C Mulley; Leanne M Dibbens; Amos D Korczyn; Samuel F Berkovic Journal: Neurology Date: 2016-01-22 Impact factor: 9.910
Authors: Nicolas Chatron; Rikke S Møller; Neena L Champaigne; Amy L Schneider; Alma Kuechler; Audrey Labalme; Thomas Simonet; Lauren Baggett; Claire Bardel; Erik-Jan Kamsteeg; Rolph Pfundt; Corrado Romano; Johan Aronsson; Antonino Alberti; Mirella Vinci; Maria J Miranda; Amy Lacroix; Dragan Marjanovic; Vincent des Portes; Patrick Edery; Dagmar Wieczorek; Elena Gardella; Ingrid E Scheffer; Heather Mefford; Damien Sanlaville; Gemma L Carvill; Gaetan Lesca Journal: Ann Neurol Date: 2018-04-30 Impact factor: 10.422
Authors: Elizabeth C Galizia; Candace T Myers; Costin Leu; Carolien G F de Kovel; Tatiana Afrikanova; Maria Lorena Cordero-Maldonado; Teresa G Martins; Maxime Jacmin; Suzanne Drury; V Krishna Chinthapalli; Hiltrud Muhle; Manuela Pendziwiat; Thomas Sander; Ann-Kathrin Ruppert; Rikke S Møller; Holger Thiele; Roland Krause; Julian Schubert; Anna-Elina Lehesjoki; Peter Nürnberg; Holger Lerche; Aarno Palotie; Antonietta Coppola; Salvatore Striano; Luigi Del Gaudio; Christopher Boustred; Amy L Schneider; Nicholas Lench; Bosanka Jocic-Jakubi; Athanasios Covanis; Giuseppe Capovilla; Pierangelo Veggiotti; Marta Piccioli; Pasquale Parisi; Laura Cantonetti; Lynette G Sadleir; Saul A Mullen; Samuel F Berkovic; Ulrich Stephani; Ingo Helbig; Alexander D Crawford; Camila V Esguerra; Dorothee G A Kasteleijn-Nolst Trenité; Bobby P C Koeleman; Heather C Mefford; Ingrid E Scheffer; Sanjay M Sisodiya Journal: Brain Date: 2015-03-17 Impact factor: 13.501