Article
The role of common genetic variation in presumed monogenic epilepsies.
EBioMedicine - 1 Jul 2022
Campbell Ciarán, Leu Costin, Feng Yen-Chen Anne, Wolking Stefan, Moreau Claudia, Ellis Colin, Ganesan Shiva, Martins Helena, Oliver Karen, Boothman Isabelle, Benson Katherine, Molloy Anne, Brody Lawrence, Michaud Jacques L, Hamdan Fadi F, Minassian Berge A, Lerche Holger, Scheffer Ingrid E, Sisodiya Sanjay, Girard Simon, Cosette Patrick, Delanty Norman, Lal Dennis, Cavalleri Gianpiero L
Abstract excerpt
BACKGROUND: The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of epilepsy and have emerged as primarily monogenic, with damaging rare mutations found in 50% of patients. Little is known about the genetic architecture of patients with DEEs...
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