Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

6533b7d3fe1ef96bd1260a7e

RESEARCH PRODUCT

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

C. Neuray R. Maroofian M. Scala T. Sultan G. S. Pai M. Mojarrad H. E. Khashab L. Deholl W. Yue H. S. Alsaif M. N. Zanetti O. Bello R. Person A. Eslahi Z. Khazaei M. H. Feizabadi S. Efthymiou H. T. El-bassyouni D. R. Soliman S. Tekes L. Ozer V. Baltaci S. Khan C. Beetz K. S. Amr V. Salpietro Y. Jamshidi F. S. Alkuraya H. Houlden S. Groppa B. M. Karashova W. Nachbauer S. Boesch L. Arning D. Timmann B. Cormand B. Perez-duenas Group Synaps G. Di Rosa M. Aguennouz J. S. Goraya T. Sultan J. Mine D. Avdjieva H. Kathom R. Tincheva S. Banu M. Pineda-marfa P. Veggiotti M. D. Ferrari A. Verrotti G. Marseglia S. Savasta M. Garcia-silva A. M. Ruiz B. Garavaglia E. Borgione S. Portaro B. M. Sanchez R. Boles S. Papacostas M. Vikelis E. Z. Papanicolaou E. Dardiotis S. Maqbool S. Ibrahim S. Kirmani N. N. Rana O. Atawneh G. Koutsis M. Breza S. Mangano C. Scuderi E. Borgione G. Morello T. Stojkovic M. Zollo G. Heimer Y. A. Dauvilliers P. Striano I. Al-khawaja F. Al-mutairi H. Sherifa

subject

Male 0301 basic medicine Glutamate decarboxylase Malalties cerebrals Neurotransmissors Neurodevelopmental delay Epilepsy 0302 clinical medicine MESH: Child Age of Onset Child cleft palate GAD1 AcademicSubjects/SCI01870 Glutamate Decarboxylase Glutamate receptor Muscle weakness //purl.org/becyt/ford/3.1 [https]Neurotransmitters MESH: Infant Hypotonia muscle weakne Cleft palate MESH: Epilepsy Child Preschool Muscle Hypotonia [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]//purl.org/becyt/ford/3 [https]Female Brain diseases Abnormalities medicine.symptom Multiple medicine.drug cleft palate; epilepsy; GAD1; muscle weakness; neurodevelopmental delay MESH: Glutamate Decarboxylase medicine.medical_specialty MESH: Abnormalities Multiple MESH: Mutation MESH: Age of Onset Biology Inhibitory postsynaptic potential GAD1 cleft palate epilepsy muscle weakness neurodevelopmental delay.gamma-Aminobutyric acid GAD1 neurodevelopmental delay 03 medical and health sciences Excitatory synapse Internal medicine medicine Humans Abnormalities Multiple Preschool Alleles MESH: Neurodevelopmental Disorders muscle weakness MESH: Humans Epilepsy MESH: Muscle Hypotonia MESH: Alleles MESH: Child Preschool Infant medicine.disease MESH: Male Epilèpsia Editor's Choice 030104 developmental biology Endocrinology Neurodevelopmental Disorders Mutation epilepsy AcademicSubjects/MED00310 Neurology (clinical)Cleft palate; Epilepsy; GAD1; Muscle weakness; Neurodevelopmental delay; Abnormalities Multiple; Age of Onset; Alleles; Child; Child Preschool; Epilepsy; Female; Glutamate Decarboxylase; Humans; Infant; Male; Muscle Hypotonia; Mutation; Neurodevelopmental Disorders MESH: Female [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology 030217 neurology & neurosurgery Reports

description

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.

year	journal	country	edition	language
2020-08-01

10.1093/brain/awaa178 http://hdl.handle.net/11567/1022383