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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Autor: Mohammadi NA; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Ahring PK; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia., Yu Liao VW; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia., Chua HC; Sydney Pharmacy School, Faculty of Medicine and Health, Charles Perkins Centre, The University of Sydney, Sydney, New South Wales 2006, Australia., Ortiz de la Rosa S; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Michaeli-Yossef Y; Pediatric Neurology Unit and Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel., Vincent-Devulder A; Genetic Department, CHU Côte de Nacre, Caen, France., Meridda C; Genetic Department, CHU Côte de Nacre, Caen, France., Bruel AL; Genetic Department, CHU Côte de Nacre, Caen, France., Rossi A; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy., Patel C; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD 4029, Australia., Klepper J; Children's Hospital Aschaffenburg-Alzenau, Aschaffenburg, Germany., Bonanni P; IRCCS E. Medea Scientific Institute, Epilepsy Unit, Conegliano, Treviso, Italy., Minghetti S; IRCCS E. Medea Scientific Institute, Clinical Neurophysiology Unit, Bosisio Parini, LC, Italy., Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Amor D; Murdoch Children's Research Institute, Melbourne, Australia., Auvin S; Université de Paris, Child Neurology & Epilepsy, Paris, France; Robert-Debré Hospital, Center for Rare Epilepsies - Pediatric Neurology, Paris, France., Baer S; Department of Paediatric Neurology, French Reference Center of Rare Epilepsies CREER, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Meyer P; Paediatric Neurology Department, Phymedexp, Montpellier University, Inserm, CNRS, University Hospital Montpellier, Montpellier, France., Milh M; Department of Pediatric Neurology, AP-HM, La Timone Children's Hospital, Marseille, France; Faculté de Médecine Timone, Aix Marseille Univ, INSERM, MMG, U1251, ERN EpiCARE, Marseille, France., Salpietro V; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Christophersen P; Saniona A/S, Ballerup, Denmark., Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Chebib M; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia., Jensen AA; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Absalom NL; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia; School of Science, Western Sydney University, Sydney, Australia. Electronic address: N.Absalom@westernsydney.edu.au., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. Electronic address: rimo@filadelfia.dk.

Publikováno v: EBioMedicine [EBioMedicine] 2024 Aug; Vol. 106, pp. 105236. Date of Electronic Publication: 2024 Jul 11.

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.

Autor: Lin SXN; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales 2006, Australia., Ahring PK; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales 2006, Australia., Keramidas A; Institute for Molecular Bioscience, The University of Queensland, Saint Lucia, QLD 4072, Australia., Liao VWY; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales 2006, Australia., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Member of ERN, EpiCare, Danish Epilepsy Centre, Dianalund DK-4293, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense DK-5230, Denmark., Chebib M; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales 2006, Australia., Absalom NL; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales 2006, Australia.; School of Science, University of Western Sydney, Sydney, New South Wales, Australia.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jan 04; Vol. 147 (1), pp. 224-239.

The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.

Autor: Ahring PK; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Liao VWY; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Lin S; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Absalom NL; School of Science, University of Western Sydney, Sydney, New South Wales, Australia., Chebib M; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.

Publikováno v: Epilepsia [Epilepsia] 2022 Sep; Vol. 63 (9), pp. 2439-2441. Date of Electronic Publication: 2022 Jul 20.

Cannabigerolic acid, a major biosynthetic precursor molecule in cannabis, exhibits divergent effects on seizures in mouse models of epilepsy.

Autor: Anderson LL; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia., Heblinski M; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia., Absalom NL; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia., Hawkins NA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Bowen MT; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; School of Psychology, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia., Benson MJ; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; School of Psychology, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia., Zhang F; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Bahceci D; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia., Doohan PT; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia., Chebib M; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia., McGregor IS; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; School of Psychology, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia., Kearney JA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Arnold JC; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.

Publikováno v: British journal of pharmacology [Br J Pharmacol] 2021 Dec; Vol. 178 (24), pp. 4826-4841. Date of Electronic Publication: 2021 Sep 30.