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Last Updated: 09/18/2022

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Found 18 publications

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.

Summary: A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.

Treatment of COVID-19-induced refractory status epilepticus by tocilizumab.

Summary: Treatment of COVID-19-induced refractory status epilepticus by tocilizumab.

Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy.

Summary: Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy.

Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations.

Summary: Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations.

Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.

Summary: Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Summary: Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.

Summary: Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.

Sympathetic nerve outflow to skin in a case with dentatorubral-pallidoluysian atrophy.

Summary: Sympathetic nerve outflow to skin in a case with dentatorubral-pallidoluysian atrophy.

Perioperative Management of an Adult Patient With Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

Summary: Perioperative Management of an Adult Patient With Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

Lafora body disease: a case of progressive myoclonic epilepsy.

Summary: Lafora body disease: a case of progressive myoclonic epilepsy.

Diagnosing MERRF requires clinical and genetic evidence.

Summary: Diagnosing MERRF requires clinical and genetic evidence.

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation.

Summary: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation.
Showing 1-12 of 18

Last Updated: 09/18/2022