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Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.Orphanet Journal of Rare Diseases|April 22, 2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsSara E Mole, Angela Schulz, Eben Badoe, et al.Pediatric Neurology|March 25, 2017
Management Strategies for CLN2 DiseaseRuth E Williams, Heather R Adams, Martin Blohm, et al.Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.Pageof 2