title: A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
authors.affiliation: Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland.
authors.forename: Katarina
authors.initials: K
authors.lastname: Pelin
authors.affiliation: 1] The Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland [2] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Kirsi
authors.initials: K
authors.lastname: Kiiski
authors.affiliation: 1] The Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland [2] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Vilma-Lotta
authors.initials: VL
authors.lastname: Lehtokari
authors.affiliation: 1] The Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland [2] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
mesh_terms: D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics*
chemical_list: D009124:Muscle Proteins