Title: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Authors: last_name: Burglen
first_name: Lydie
name: Lydie Burglen
affiliations: label: 1
address: Paris
institution: Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University
country: France
name: https://ror.org/02en5vm52 Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University Paris France
label: 2
address: Paris
institution: Developmental Brain Disorders Laboratory, Imagine Institute
country: France
name: https://ror.org/05rq3rb55 Developmental Brain Disorders Laboratory, Imagine Institute Paris France
orcid: https://orcid.org/0000-0003-3897-8998
last_name: Van Hoeymissen
first_name: Evelien
name: Evelien Van Hoeymissen
affiliations: label: 3
address: Leuven
institution: Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven Leuven Belgium
label: 4
address: Leuven
institution: VIB Center for Brain & Disease Research
country: Belgium
name: https://ror.org/045c7t348 VIB Center for Brain & Disease Research Leuven Belgium
label: 5
address: Leuven
institution: Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven Leuven Belgium
last_name: Qebibo
first_name: Leila
name: Leila Qebibo
affiliations: label: 1
address: Paris
institution: Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University
country: France
name: https://ror.org/02en5vm52 Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University Paris France
last_name: Barth
first_name: Magalie
name: Magalie Barth
affiliations: label: 6
address: Angers
institution: Department of Genetics, University Hospital of Angers
country: France
name: https://ror.org/04yrqp957 Department of Genetics, University Hospital of Angers Angers France
last_name: Belnap
first_name: Newell
name: Newell Belnap
affiliations: label: 7
address: Phoenix
institution: Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders
country: United States
name: https://ror.org/02hfpnk21 Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders Phoenix United States
last_name: Boschann
first_name: Felix
name: Felix Boschann
affiliations: label: 8
address: Berlin
institution: Charité – Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics
country: Germany
name: https://ror.org/001w7jn25 Charité – Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics Berlin Germany
last_name: Depienne
first_name: Christel
name: Christel Depienne
affiliations: label: 9
address: Essen
institution: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen
country: Germany
name: https://ror.org/04mz5ra38 Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen Essen Germany
last_name: De Clercq
first_name: Katrien
name: Katrien De Clercq
affiliations: label: 3
address: Leuven
institution: Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven Leuven Belgium
label: 4
address: Leuven
institution: VIB Center for Brain & Disease Research
country: Belgium
name: https://ror.org/045c7t348 VIB Center for Brain & Disease Research Leuven Belgium
label: 5
address: Leuven
institution: Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven Leuven Belgium
last_name: Douglas
first_name: Andrew GL
name: Andrew GL Douglas
affiliations: label: 10
address: Southampton
institution: University Hospital Southampton NHS Foundation Trust
country: United Kingdom
name: 10 https://ror.org/0485axj58 University Hospital Southampton NHS Foundation Trust Southampton United Kingdom
last_name: Fitzgerald
first_name: Mark P
name: Mark P Fitzgerald
affiliations: label: 11
address: Philadelphia
institution: Children's Hospital of Philadelphia
country: United States
name: 11 https://ror.org/01z7r7q48 Children's Hospital of Philadelphia Philadelphia United States
last_name: Foulds
first_name: Nicola
name: Nicola Foulds
affiliations: label: 12
address: Southampton
institution: Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust
country: United Kingdom
name: 12 https://ror.org/0485axj58 Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust Southampton United Kingdom
last_name: Garel
first_name: Catherine
name: Catherine Garel
affiliations: label: 1
address: Paris
institution: Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University
country: France
name: https://ror.org/02en5vm52 Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University Paris France
label: 13
address: Paris
institution: Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université
country: France
name: 13 https://ror.org/02en5vm52 Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université Paris France
last_name: Helbig
first_name: Ingo
name: Ingo Helbig
affiliations: label: 11
address: Philadelphia
institution: Children's Hospital of Philadelphia
country: United States
name: 11 https://ror.org/01z7r7q48 Children's Hospital of Philadelphia Philadelphia United States
last_name: Held
first_name: Katharina
name: Katharina Held
affiliations: label: 3
address: Leuven
institution: Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven Leuven Belgium
label: 4
address: Leuven
institution: VIB Center for Brain & Disease Research
country: Belgium
name: https://ror.org/045c7t348 VIB Center for Brain & Disease Research Leuven Belgium
label: 5
address: Leuven
institution: Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven Leuven Belgium
orcid: https://orcid.org/0000-0003-0870-8911
last_name: Horn
first_name: Denise
name: Denise Horn
affiliations: label: 8
address: Berlin
institution: Charité – Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics
country: Germany
name: https://ror.org/001w7jn25 Charité – Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics Berlin Germany
orcid: https://orcid.org/0000-0002-6735-8248
last_name: Janssen
first_name: Annelies
name: Annelies Janssen
affiliations: label: 3
address: Leuven
institution: Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven Leuven Belgium
label: 4
address: Leuven
institution: VIB Center for Brain & Disease Research
country: Belgium
name: https://ror.org/045c7t348 VIB Center for Brain & Disease Research Leuven Belgium
orcid: https://orcid.org/0000-0001-9454-206X
last_name: Kaindl
first_name: Angela M
name: Angela M Kaindl
affiliations: label: 14
address: Berlin
institution: Institute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin
country: Germany
name: 14 https://ror.org/001w7jn25 Institute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin Berlin Germany
label: 15
address: Berlin
institution: Department of Pediatric Neurology, Charité - Universitäts medizin Berlin
country: Germany
name: 15 https://ror.org/001w7jn25 Department of Pediatric Neurology, Charité - Universitäts medizin Berlin Berlin Germany
label: 16
address: Berlin
institution: Charité – Universitäts medizin Berlin, Center for Chronically Sick Children
country: Germany
name: 16 https://ror.org/001w7jn25 Charité – Universitäts medizin Berlin, Center for Chronically Sick Children Berlin Germany
orcid: https://orcid.org/0000-0002-0658-3847
last_name: Narayanan
first_name: Vinodh
name: Vinodh Narayanan
affiliations: label: 7
address: Phoenix
institution: Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders
country: United States
name: https://ror.org/02hfpnk21 Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders Phoenix United States
last_name: Prager
first_name: Christina
name: Christina Prager
affiliations: label: 15
address: Berlin
institution: Department of Pediatric Neurology, Charité - Universitäts medizin Berlin
country: Germany
name: 15 https://ror.org/001w7jn25 Department of Pediatric Neurology, Charité - Universitäts medizin Berlin Berlin Germany
label: 16
address: Berlin
institution: Charité – Universitäts medizin Berlin, Center for Chronically Sick Children
country: Germany
name: 16 https://ror.org/001w7jn25 Charité – Universitäts medizin Berlin, Center for Chronically Sick Children Berlin Germany
last_name: Rupin-Mas
first_name: Mailys
name: Mailys Rupin-Mas
affiliations: label: 17
address: Angers
institution: Department of Neuropediatrics, University Hospital of Angers
country: France
name: 17 Department of Neuropediatrics, University Hospital of Angers Angers France
last_name: Afenjar
first_name: Alexandra
name: Alexandra Afenjar
affiliations: label: 1
address: Paris
institution: Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University
country: France
name: https://ror.org/02en5vm52 Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University Paris France
orcid: https://orcid.org/0000-0003-2005-9440
last_name: Zhao
first_name: Siyuan
name: Siyuan Zhao
affiliations: label: 18
address: Newark
institution: Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey
country: United States
name: 18 https://ror.org/05vt9qd57 Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey Newark United States
last_name: Ramaekers
first_name: Vincent Th
name: Vincent Th Ramaekers
affiliations: label: 19
address: Liège
institution: Division Neuropediatrics, University Hospital Liège
country: Belgium
name: 19 https://ror.org/00afp2z80 Division Neuropediatrics, University Hospital Liège Liège Belgium
last_name: Ruggiero
first_name: Sarah M
name: Sarah M Ruggiero
affiliations: label: 11
address: Philadelphia
institution: Children's Hospital of Philadelphia
country: United States
name: 11 https://ror.org/01z7r7q48 Children's Hospital of Philadelphia Philadelphia United States
last_name: Thomas
first_name: Simon
name: Simon Thomas
affiliations: label: 20
address: Salisbury
institution: Wessex Regional Genetics Laboratory, Salisbury District Hospital
country: United Kingdom
name: 20 https://ror.org/05bx2yj81 Wessex Regional Genetics Laboratory, Salisbury District Hospital Salisbury United Kingdom
last_name: Valence
first_name: Stéphanie
name: Stéphanie Valence
affiliations: label: 1
address: Paris
institution: Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University
country: France
name: https://ror.org/02en5vm52 Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University Paris France
label: 21
address: Paris
institution: Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP
country: France
name: 21 https://ror.org/02en5vm52 Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP Paris France
last_name: Van Maldergem
first_name: Lionel
name: Lionel Van Maldergem
affiliations: label: 22
address: Besancon
institution: Centre de Génétique Humaine, Université de Franche-Comté Besançon
country: France
name: 22 https://ror.org/03pcc9z86 Centre de Génétique Humaine, Université de Franche-Comté Besançon Besancon France
label: 23
address: Besancon
institution: Center of Clinical Investigation 1431, National Institute of Health and Medical Research
country: France
name: 23 https://ror.org/02vjkv261 Center of Clinical Investigation 1431, National Institute of Health and Medical Research Besancon France
orcid: https://orcid.org/0000-0003-3580-2575
last_name: Rohacs
first_name: Tibor
name: Tibor Rohacs
affiliations: label: 18
address: Newark
institution: Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey
country: United States
name: 18 https://ror.org/05vt9qd57 Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey Newark United States
last_name: Rodriguez
first_name: Diana
name: Diana Rodriguez
affiliations: label: 1
address: Paris
institution: Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University
country: France
name: https://ror.org/02en5vm52 Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University Paris France
label: 21
address: Paris
institution: Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP
country: France
name: 21 https://ror.org/02en5vm52 Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP Paris France
last_name: Dyment
first_name: David
name: David Dyment
affiliations: label: 24
address: Ottawa
institution: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
country: Canada
name: 24 https://ror.org/03c4mmv16 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa Ottawa Canada
last_name: Voets
first_name: Thomas
name: Thomas Voets
corresponding: yes
affiliations: label: 3
address: Leuven
institution: Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven Leuven Belgium
label: 4
address: Leuven
institution: VIB Center for Brain & Disease Research
country: Belgium
name: https://ror.org/045c7t348 VIB Center for Brain & Disease Research Leuven Belgium
orcid: https://orcid.org/0000-0002-2502-0409
last_name: Vriens
first_name: Joris
name: Joris Vriens
corresponding: yes
affiliations: label: 5
address: Leuven
institution: Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven Leuven Belgium
last_name: Jara-Oseguera
first_name: Andrés
name: Andrés Jara-Oseguera
Affiliations: label: 1
address: Paris
institution: Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University
country: France
name: https://ror.org/02en5vm52 Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University Paris France
label: 2
address: Paris
institution: Developmental Brain Disorders Laboratory, Imagine Institute
country: France
name: https://ror.org/05rq3rb55 Developmental Brain Disorders Laboratory, Imagine Institute Paris France
label: 3
address: Leuven
institution: Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven Leuven Belgium
label: 4
address: Leuven
institution: VIB Center for Brain & Disease Research
country: Belgium
name: https://ror.org/045c7t348 VIB Center for Brain & Disease Research Leuven Belgium
label: 5
address: Leuven
institution: Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven
country: Belgium
name: https://ror.org/05f950310 Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven Leuven Belgium
label: 6
address: Angers
institution: Department of Genetics, University Hospital of Angers
country: France
name: https://ror.org/04yrqp957 Department of Genetics, University Hospital of Angers Angers France
label: 7
address: Phoenix
institution: Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders
country: United States
name: https://ror.org/02hfpnk21 Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders Phoenix United States
label: 8
address: Berlin
institution: Charité – Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics
country: Germany
name: https://ror.org/001w7jn25 Charité – Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics Berlin Germany
label: 9
address: Essen
institution: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen
country: Germany
name: https://ror.org/04mz5ra38 Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen Essen Germany
label: 10
address: Southampton
institution: University Hospital Southampton NHS Foundation Trust
country: United Kingdom
name: 10 https://ror.org/0485axj58 University Hospital Southampton NHS Foundation Trust Southampton United Kingdom
label: 11
address: Philadelphia
institution: Children's Hospital of Philadelphia
country: United States
name: 11 https://ror.org/01z7r7q48 Children's Hospital of Philadelphia Philadelphia United States
label: 12
address: Southampton
institution: Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust
country: United Kingdom
name: 12 https://ror.org/0485axj58 Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust Southampton United Kingdom
label: 13
address: Paris
institution: Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université
country: France
name: 13 https://ror.org/02en5vm52 Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université Paris France
label: 14
address: Berlin
institution: Institute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin
country: Germany
name: 14 https://ror.org/001w7jn25 Institute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin Berlin Germany
label: 15
address: Berlin
institution: Department of Pediatric Neurology, Charité - Universitäts medizin Berlin
country: Germany
name: 15 https://ror.org/001w7jn25 Department of Pediatric Neurology, Charité - Universitäts medizin Berlin Berlin Germany
label: 16
address: Berlin
institution: Charité – Universitäts medizin Berlin, Center for Chronically Sick Children
country: Germany
name: 16 https://ror.org/001w7jn25 Charité – Universitäts medizin Berlin, Center for Chronically Sick Children Berlin Germany
label: 17
address: Angers
institution: Department of Neuropediatrics, University Hospital of Angers
country: France
name: 17 Department of Neuropediatrics, University Hospital of Angers Angers France
label: 18
address: Newark
institution: Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey
country: United States
name: 18 https://ror.org/05vt9qd57 Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey Newark United States
label: 19
address: Liège
institution: Division Neuropediatrics, University Hospital Liège
country: Belgium
name: 19 https://ror.org/00afp2z80 Division Neuropediatrics, University Hospital Liège Liège Belgium
label: 20
address: Salisbury
institution: Wessex Regional Genetics Laboratory, Salisbury District Hospital
country: United Kingdom
name: 20 https://ror.org/05bx2yj81 Wessex Regional Genetics Laboratory, Salisbury District Hospital Salisbury United Kingdom
label: 21
address: Paris
institution: Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP
country: France
name: 21 https://ror.org/02en5vm52 Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP Paris France
label: 22
address: Besancon
institution: Centre de Génétique Humaine, Université de Franche-Comté Besançon
country: France
name: 22 https://ror.org/03pcc9z86 Centre de Génétique Humaine, Université de Franche-Comté Besançon Besancon France
label: 23
address: Besancon
institution: Center of Clinical Investigation 1431, National Institute of Health and Medical Research
country: France
name: 23 https://ror.org/02vjkv261 Center of Clinical Investigation 1431, National Institute of Health and Medical Research Besancon France
label: 24
address: Ottawa
institution: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
country: Canada
name: 24 https://ror.org/03c4mmv16 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa Ottawa Canada
institution: The University of Texas at Austin
country: United States
name: https://ror.org/00hj54h04 The University of Texas at Austin United States
institution: The University of Texas at Austin
country: United States
name: https://ror.org/00hj54h04 The University of Texas at Austin United States
institution: The University of Texas at Austin
country: United States
name: https://ror.org/00hj54h04 The University of Texas at Austin United States
institution: The University of Texas at Austin
country: United States
name: https://ror.org/00hj54h04 The University of Texas at Austin United States
institution: The University of Texas at Austin
country: United States
name: https://ror.org/00hj54h04 The University of Texas at Austin United States
Field: Neuroscience
Document type: article
Year: 2023