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De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Webster, R; Cho, M T; Retterer, K; Millan, F; Nowak, C; Douglas, J; Ahmad, A; Raymond, G V; Johnson, M R; Pujol, A; Begtrup, A; McKnight, D; Devinsky, O; Chung, W K.
Affiliation
  • Webster R; Department of Medicine, Columbia University Medical Center, New York, NY, USA.
  • Cho MT; GeneDx, Gaithersburg, MD, USA.
  • Retterer K; GeneDx, Gaithersburg, MD, USA.
  • Millan F; GeneDx, Gaithersburg, MD, USA.
  • Nowak C; Boston Children's Hospital, Boston, MA, USA.
  • Douglas J; Boston Children's Hospital, Boston, MA, USA.
  • Ahmad A; University of Michigan, Ann Arbor, MI, USA.
  • Raymond GV; Department of Neurology and Pediatrics, University of Minnesota Medical Center, Minneapolis, MN, USA.
  • Johnson MR; Department of Neurology and Pediatrics, University of Minnesota Medical Center, Minneapolis, MN, USA.
  • Pujol A; Neurometabolic Diseases Laboratory, ICREA/IDIBELL and CIBERER U759, Barcelona, Spain.
  • Begtrup A; GeneDx, Gaithersburg, MD, USA.
  • McKnight D; GeneDx, Gaithersburg, MD, USA.
  • Devinsky O; New York University School of Medicine, New York, NY, USA.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
Clin Genet ; 91(5): 756-763, 2017 05.
Article in En | MEDLINE | ID: mdl-27568816
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Full text: 1 Database: MEDLINE Main subject: Epilepsy / Loss of Function Mutation / Intellectual Disability / Nerve Tissue Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Clin Genet Year: 2017 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Epilepsy / Loss of Function Mutation / Intellectual Disability / Nerve Tissue Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Clin Genet Year: 2017 Type: Article Affiliation country: United States