title: SCN8Amutation in a child presenting with seizures and developmental delays.
abstract: TheSCN8Agene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation inSCN8Awas identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
authors.affiliation: Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Genetic Counseling Graduate Program, Long Island University (LIU), Brookville, New York 11548, USA.
authors.forename: Janet
authors.initials: J
authors.lastname: Malcolmson
authors.affiliation: Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Kleyner
authors.affiliation: Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
authors.forename: David
authors.initials: D
authors.lastname: Tegay
authors.affiliation: Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.
authors.forename: Whit
authors.initials: W
authors.lastname: Adams
authors.affiliation: Affiliated Genetics, Salt Lake City, Utah 84109, USA.
authors.forename: Kenneth
authors.initials: K
authors.lastname: Ward
authors.affiliation: Affiliated Genetics, Salt Lake City, Utah 84109, USA.
authors.forename: Justine
authors.initials: J
authors.lastname: Coppinger
authors.affiliation: Affiliated Genetics, Salt Lake City, Utah 84109, USA.
authors.forename: Lesa
authors.initials: L
authors.lastname: Nelson
authors.affiliation: Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618, USA.
authors.forename: Miriam H
authors.initials: MH
authors.lastname: Meisler
authors.affiliation: Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA;; Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California 90089, USA;; Department of Psychiatry and Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
authors.affiliation: Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.
authors.forename: Reid
authors.initials: R
authors.lastname: Robison
authors.affiliation: Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.
authors.forename: Gholson J
authors.initials: GJ
authors.lastname: Lyon
mesh_terms: D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D004827:Epilepsy / Q000150:complications; D005260:Female; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D062557:NAV1.6 Voltage-Gated Sodium Channel / Q000235:genetics* / Q000378:metabolism; D012640:Seizures / Q000150:complications / Q000235:genetics; D017422:Sequence Analysis, DNA; D000073359:Exome Sequencing / Q000379:methods
chemical_list: D062557:NAV1.6 Voltage-Gated Sodium Channel; C100681:SCN8A protein, human
keywords: absent speech; action tremor; appendicular hypotonia; blepharospasm; broad forehead; bulbar palsy; developmental regression; developmental stagnation at onset of seizures; dysphagia; epileptic encephalopathy; exaggerated startle response; failure to thrive in infancy; full cheeks; gastroesophageal reflux; gastrostomy tube feeding in infancy; generalized tonic seizures; generalized tonic-clonic seizures on awakening; gingival overgrowth; hypoxemia; infantile axial hypotonia; intellectual disability, severe; neck muscle weakness; no social interaction; obstructive sleep apnea; respiratory difficulties