BACKGROUND
Early-onset hereditary spastic paraplegias (HSPs) are an underrecognized cause of progressive spasticity, gait impairment, and movement disorders in children and young adults. HSPs frequently mimic cerebral palsy or genetic, metabolic, and acquired disorders, resulting in diagnostic delay. Their broad phenot...
Jenny L. Wilson, Craig Blackstone, D. Ebrahimi-Fakhari et al.· Movement Disorders Clinical...· 0 citations
Epilepsy-dyskinesia syndromes cover a broad spectrum of neurogenetic disorders defined by the co-occurrence of epileptic and movement disorder phenotypes. Advances in next-generation sequencing have demonstrated more than 100 causative genes converging on shared molecular pathways regulating neuronal excitability, syna...
K. Bernardi, J. Alecu, C. Achkar et al.· Movement Disorders· 1 citation
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