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Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.
Neurology
November 2023
From the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.
Background And Objectives: Movement disorders (MDs) are underrecognized in the developmental and epileptic encephalopathies (DEEs). There are now more than 800 genes implicated in causing the DEEs; relatively few of these rare genetic diseases are known to be associated with MDs. We identified patients with genetic DEEs who had MDs, classified the nature of their MDs, and asked whether specific patterns correlated with the underlying mechanism.
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