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Review

Strategies on Gene Therapy in Progressive Myoclonus Epilepsies

Saima Kayani, Emrah Gumusgoz, Berge A. Minassian, Alison Dolce
Jeffrey L. Noebels  1 , Massimo Avoli  2 , Michael A. Rogawski  3 , Annamaria Vezzani  4 , Antonio V. Delgado-Escueta  5
, editors.
In: Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 52.
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Review

Strategies on Gene Therapy in Progressive Myoclonus Epilepsies

Saima Kayani et al.
Free Books & Documents

Excerpt

Progressive myoclonus epilepsies (PMEs) are a group of genetically and clinically heterogeneous diseases characterized by an invariable neurodegenerative decline leading to devastating disabilities and often fatal outcomes. Although there is a broad range of clinical manifestations, the shared features are encompassed within the name. Typically beginning in childhood and adolescence, patients present with very frequent myoclonus in addition to other types of epileptic seizures that very soon become refractory to medication. This is accompanied by a progressive neurocognitive decline along with other devastating changes including, but not limited to, vision loss, neuropathy, myopathy, and ataxia in a child that was otherwise previously normal. This chapter will review the potential therapeutic strategies for various PMEs.

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