Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center - Rus, Corina-Marcela; Weissensteiner, Thomas; Pereira, Catarina; Susnea, Iuliana; Danquah, Bright D.; Morales Torres, Galina; Rocha, Maria Eugenia; Cozma, Claudia; Saravanakumar, Deepa; Mannepalli, Sumanth; Kandaswamy, Krishna K.; Di Bucchianico, Sebastiano; et al. (Orphanet journal of rare diseases, 2022)
Keywords: Adolescent; Age; Ataxia; Batten disease; CLN6; Diagnosis; Disease; Epilepsy; Female; Gene deletion; Genetic aspects; Genetic diversity; Genetic research; Genetic screening; Genotypes; Humans; Lysosomal storage disorder; Male; Medical research; Membrane Proteins - genetics; Musculoskeletal system; Mutation; Mutation - genetics; Myoclonic Epilepsies, Progressive; Nervous system; Neurological diseases; Neuronal ceroid lipofuscinoses; Neuronal ceroid lipofuscinosis; Neuronal Ceroid-Lipofuscinoses - genetics; New variant; Patients; Phenotypes; Phenotypic variations; Rare disease; Rare diseases; Seizures; Visual impairment; Middle East; Northern Africa; Egypt; Saudi Arabia; Lebanon; North Africa; Latin America; Phenotype; Rare disease; Lysosomal storage disorder; Genotype; Batten disease; CLN6; Neuronal ceroid lipofuscinoses; New variant