Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Fanggeng ZouGeneDx, Inc, Gaithersburg, MD, USA; View further author information

Kirsty McWalterGeneDx, Inc, Gaithersburg, MD, USA; View further author information

Lindsay SchmidtGeneDx, Inc, Gaithersburg, MD, USA; View further author information

Amy DeckerGeneDx, Inc, Gaithersburg, MD, USA; View further author information

Jonathan D. PickerDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; View further author information

Sharyn LincolnDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; ;NIH Common Fund, Undiagnosed Diseases Network, Bethesda, MD, USA; View further author information

David A. SweetserNIH Common Fund, Undiagnosed Diseases Network, Bethesda, MD, USA; ;Department of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, USA; View further author information

Lauren C. BriereNIH Common Fund, Undiagnosed Diseases Network, Bethesda, MD, USA; ;Department of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, USA; View further author information

Chellamani HariniDivision of Neurophysiology, Boston Children's Hospital, Boston, MA, USA; View further author information

, Members of the Undiagnosed Diseases Network,

Eric MarshDivision of Child Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; View further author information

Livija MedneIndividualized Medical Genetics Center, Division of Human Genetics, Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; View further author information

Raymond Y. WangDivision of Metabolic Disorders, CHOC Children’s Hospital, Orange, CA, USA; View further author information

Karen LeydikerDivision of Metabolic Disorders, CHOC Children’s Hospital, Orange, CA, USA; View further author information

Andrew MowerNeurology, CHOC Children’s Hospital, Orange, CA, USA; View further author information

Gepke VisserWilhelmina Children’s Hospital/University Medical Center, Utrecht, the Netherlands; View further author information

Inge CuppenWilhelmina Children’s Hospital/University Medical Center, Utrecht, the Netherlands; View further author information

Koen L. van GassenDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands; View further author information

Jasper van der SmagtDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands; View further author information

Adeel YousafUniversity of North Carolina at Chapel Hill, Chapel Hill, NC, USA; View further author information

Michael TennisonUniversity of North Carolina at Chapel Hill, Chapel Hill, NC, USAView further author information

Anita ShanmughamGeneDx, Inc, Gaithersburg, MD, USA; View further author information

Elizabeth ButlerGeneDx, Inc, Gaithersburg, MD, USA; View further author information

Gabriele RichardGeneDx, Inc, Gaithersburg, MD, USA; View further author information

Dianalee McKnightGeneDx, Inc, Gaithersburg, MD, USA; Correspondence[email protected]
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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

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