Targeted treatment of migrating partial seizures of infancy with quinidine

Bearden, David; Strong, Alanna; Ehnot, Jessica; DiGiovine, Marissa; Dlugos, Dennis J.; Goldberg, Ethan M.

doi:10.1002/ana.24229

Cited by 241 publications

(185 citation statements)

References 17 publications

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“…Moreover, we have established that quinidine reversibly inhibits all human WT and mutant KCNT1 channels studied here. This, together with the demonstration that quinidine effectively reduces seizure frequency for a patient with EIMFS [14] , suggests that quinidine holds great promise as a new treatment paradigm for patients with early-onset epileptic encephalopathies that are associated with KCNT1 mutations. A better understanding of how these mutations affect the biophysical properties of the channel could lead to the development of quinidine analogues with greater specificity for KCNT1 and improved safety.…”

Section: Research Highlightmentioning

confidence: 98%

KCNT1 gain-of-function mutations linked to human epilepsy are modulated by quinidine

Milligan

Li²,

Petrou

2014

Mol Cell Epilepsy

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Section: Research Highlightmentioning

confidence: 98%

KCNT1 gain-of-function mutations linked to human epilepsy are modulated by quinidine

Milligan

Li²,

Petrou

2014

Mol Cell Epilepsy

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“…Quinidine is both an antiarrhythmic agent and antimalarial treatment. Open‐label trials of quinidine in three children with KCNT1 mutations and devastating epilepsies provide the first glimmer of hope for precision medicine, with improvement in seizure frequency observed in the two children whose mutations showed the greatest gain of function in vitro and were associated with the most severe phenotype, epilepsy of infancy with migrating focal seizures 18, 19. Although promising, randomized double‐blind placebo‐controlled trials are necessary to prove unequivocal efficacy as a precision medicine.…”

Section: Proposal For a Framework For Epilepsy Classification And Diamentioning

confidence: 99%

Classification of the epilepsies: New concepts for discussion and debate—Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology

et al. 2016

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SummaryThe ILAE Task Force on Classification presents a road map for the development of an updated, relevant classification of the epilepsies. Our objective is to explain the process to date and the plan moving forward as well as to invite further discussion about the newly proposed terms and concepts. Here, we present our response to feedback about the 2010 Organization of the Epilepsies and clarify the reintroduction of the word “classification” to map out a framework for epilepsy diagnosis. We introduce some new concepts and suggest four diagnostic levels: seizure type, epilepsy category, epilepsy syndrome, and epilepsy with (specific) etiology to denote specific levels of diagnosis. We expand the etiological categories to six, focusing on those with treatment implications. Finally, we discuss the changes in terminology originally suggested and modifications in response to comments from the epilepsy community. We welcome feedback and discussion from the global epilepsy community, particularly for the new suggested terms, so that we can cement a classification that both reflects current thinking and scientific understanding and provides a dynamic, evolving framework.

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“…These examples generally consist of case reports or small case series, and examples include the use of quinidine in KCNT1-associated migrating partial seizures of infancy [22,23,24], the use of memantine in patients with NMDA subunit/GRIN2A-associated epilepsy, and the previously mentioned GLUT-1 deficiency [25]. …”

Section: The Emergence Of Precision Therapeutics In Rare Epilepsy Synmentioning

confidence: 99%

eHealth as a Facilitator of Precision Medicine in Epilepsy

Cavalleri¹,

Petrovski²,

Fitzsimons³

et al. 2017

Biomed Hub

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Epilepsy is a chronic neurological condition that affects approximately 50 million people worldwide. Current treatments are inadequate and around a third of patients continue to experience uncontrolled seizures. The genetic architecture of many of the epilepsies makes them amenable to next-generation sequencing technologies, enabling a molecular diagnosis in an increasing proportion of patients. As a result, rare but remarkable examples of precision therapeutics in epilepsy are emerging. Coordinated research efforts are required to increase the diagnostic yield of sequencing and translate diagnosis to improved prognosis. This review explores the potential of eHealth technologies in facilitating and accelerating precision therapeutics in epilepsy. We describe the state of the art in precision diagnostics and therapeutics in epilepsy and identify opportunities for eHealth to accelerate the realisation of precision therapeutics via patient registries, research-enabled electronic health records, and connected health solutions.

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Targeted treatment of migrating partial seizures of infancy with quinidine

Cited by 241 publications

References 17 publications

KCNT1 gain-of-function mutations linked to human epilepsy are modulated by quinidine

KCNT1 gain-of-function mutations linked to human epilepsy are modulated by quinidine

Classification of the epilepsies: New concepts for discussion and debate—Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology

eHealth as a Facilitator of Precision Medicine in Epilepsy

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