Article
A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.
Orphanet journal of rare diseases - 17 Jul 2021
Jdila Marwa Ben, Mignon-Ravix Cécile, Ncir Sihem Ben, Kammoun Fatma, Fakhfakh Faiza, Villard Laurent, Triki Chahnez
Abstract excerpt
BACKGROUND: Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently leading to impaired motor, cognitive and sensory development. PATIENTS AND METHODS: The present study reports a clinical investigation and a molecular analysis by Next Generation Sequencing (NGS) of a large...
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