Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, Sumita Danda, Akbar Mohamed Chettali, Asuri N Prasad, Sali M K Farhan, Daad AlSowat, Musaad Abukhaled, Hesham Aldhalaan, Vykuntaraju K Gowda, Uddhava V Kinhal, Arun Y Bylappa, Ramesh Konanki, Lokesh Lingappa, Bindu Madhavi Parchuri, Juan P Appendino, Morris H Scantlebury, Jessie Cunningham, Aristides Hadjinicolaou, Christelle Moufawad El Achkar, Mahesh Kamate, Ramshekhar N Menon, Manna Jose, Gillian Riordan, Lakshminarayanan Kannan, Vivek Jain, Ranjith Kumar Manokaran, Vann Chau, Elizabeth J Donner, Gregory Costain, Berge A Minassian, Puneet Jain
OBJECTIVE: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort. METHODS: Families with molecularly confirmed diagnoses of KCTD7-related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, treatment, genetic testing, electroencephalographic (EEG), and imaging-related variables were collected and summarized...
March 2024: Epilepsia