title: Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
authors.forename: M
authors.initials: M
authors.lastname: Vivero
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: M T
authors.initials: MT
authors.lastname: Cho
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: A
authors.initials: A
authors.lastname: Begtrup
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: I M
authors.initials: IM
authors.lastname: Wentzensen
authors.affiliation: Department of Child Neurology, Riley Hospital for Children, Indianapolis, IN, USA.
authors.forename: L
authors.initials: L
authors.lastname: Walsh
authors.affiliation: Department of Child Neurology, Riley Hospital for Children, Indianapolis, IN, USA.
authors.forename: K
authors.initials: K
authors.lastname: Payne
authors.affiliation: Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
authors.forename: Y A
authors.initials: YA
authors.lastname: Zarate
authors.affiliation: Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
authors.forename: K
authors.initials: K
authors.lastname: Bosanko
authors.affiliation: Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
authors.forename: G B
authors.initials: GB
authors.lastname: Schaefer
authors.affiliation: Center for Human Genetics, University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, OH, USA.
authors.forename: S
authors.initials: S
authors.lastname: DeBrosse
authors.affiliation: Division of Genetics, Arnold Palmer Hospital for Children, Orlando, FL, USA.
authors.forename: L
authors.initials: L
authors.lastname: Pollack
authors.affiliation: Division of Genetics, Arnold Palmer Hospital for Children, Orlando, FL, USA.
authors.forename: K
authors.initials: K
authors.lastname: Mason
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: K
authors.initials: K
authors.lastname: Retterer
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: S
authors.initials: S
authors.lastname: DeWard
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: J
authors.initials: J
authors.lastname: Juusola
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
authors.forename: W K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics* / Q000378:metabolism; D003286:Contracture / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism; D007473:Ion Channels; D008297:Male; D008565:Membrane Proteins; D020125:Mutation, Missense; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome; D000073359:Exome Sequencing
chemical_list: D007473:Ion Channels; D008565:Membrane Proteins; C544681:NALCN protein, human; D015222:Sodium Channels
keywords: CLIFAHDD syndrome; NALCN; de novo; neurodevelopmental disorder; whole-exome sequencing