Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to <i>KCNC1</i> mutation (MEAK): a case report and review of the literature

Barot, Niravkumar; Margiotta, Megan; Nei, Maromi; Skidmore, Christopher

doi:10.1684/epd.2020.1197

Cited by 13 publications

(11 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Birds and mammals diverged 300 million years ago, so this remarkable conservation suggests that Kv3.1 channels may be optimized for enabling ultranarrow AP waveforms and high-frequency firing. Accordingly, loss-of-function mutations in the human Kv3.1 gene result in myoclonus epilepsy and ataxia, a disease that among other symptoms presents with severe motor deficits ( Barot et al, 2020 ; Muona et al, 2015 ).…”

Section: Discussionmentioning

confidence: 99%

Motor cortex analogue neurons in songbirds utilize Kv3 channels to generate ultranarrow spikes

Zemel

Nevue

Tavares

et al. 2023

eLife

View full text Add to dashboard Cite

Complex motor skills in vertebrates require specialized upper motor neurons with precise action potential (AP) firing. To examine how diverse populations of upper motor neurons subserve distinct functions and the specific repertoire of ion channels involved, we conducted a thorough study of the excitability of upper motor neurons controlling somatic motor function in the zebra finch. We found that robustus arcopallialis projection neurons (RAPNs), key command neurons for song production, exhibit ultranarrow spikes and higher firing rates compared to neurons controlling non-vocal somatic motor functions (AId neurons). Pharmacological and molecular data indicate that this striking difference is associated with the higher expression in RAPNs of a high threshold, fast-activating voltage-gated K+ channel, Kv3.1 (KCNC1). The spike waveform and Kv3.1 expression in RAPNs mirror properties of Betz cells, specialized upper motor neurons involved in fine digit control in humans and other primates but absent in rodents. Our study thus provides evidence that songbirds and primates have convergently evolved the use of Kv3.1 to ensure precise, rapid AP firing in upper motor neurons controlling fast and complex motor skills.

show abstract

Section: Discussionmentioning

confidence: 99%

Motor cortex analogue neurons in songbirds utilize Kv3 channels to generate ultranarrow spikes

Zemel

Nevue

Tavares

et al. 2023

eLife

View full text Add to dashboard Cite

show abstract

“…Songbirds and mammals diverged 300 million years ago, so this remarkable conservation suggests that Kv3.1 channels may be optimized for enabling ultranarrow AP waveforms and high frequency firing. Accordingly, loss of function mutations in the human Kv3.1 gene result in myoclonus epilepsy and ataxia (MEAK), a disease that amongst other symptoms, presents with severe motor deficits (Barot, Margiotta, Nei, & Skidmore, 2020; Muona et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

Cortical Betz cells analogue in songbirds utilizes Kv3.1 to generate ultranarrow spikes

Zemel

Nevue

Tavares

et al. 2022

Preprint

View full text Add to dashboard Cite

Complex motor skills in vertebrates require specialized upper motor neurons with precise action potential (AP) firing. To examine how diverse populations of upper motor neurons subserve distinct functions and the specific repertoire of ion channels involved, we conducted a thorough study of the excitability of upper motor neurons controlling somatic motor function in the zebra finch. We found that robustus arcopallialis projection neurons (RAPNs), key command neurons for song production, exhibit ultranarrow spikes and higher firing rates compared to neurons controlling non-vocal somatic motor functions (AId neurons). This striking difference was primarily due to the expression of a high threshold, fast-activating voltage-gated K+ channel, Kv3.1 (KCNC1). RAPN properties thus mirror those of the sparse, specialized Betz cells in the motor cortex of humans and other primates, which also fire ultranarrow spikes enabled by Kv3.1 expression. These large layer 5 pyramidal neurons are involved in fine digit control and are notably absent in rodents. Our study thus provides evidence that songbird RAPNs and primate Betz cells have convergently evolved the use of Kv3.1 to ensure precise, rapid AP firing required for fast and complex motor skills.

show abstract

“…Electroencephalogram disclosed generalized spike and spike-wave paroxysms. Whole exome sequencing identified a previously described missense variant c.959G > A (p.Arg320His) in KCNC1 [ 4 , 5 ]. This variant is classified as pathogenic according to ACMG criteria [ 6 ] and was reported to cause Myoclonic Epilepsy Type 7 (OMIM#616,187).…”

Section: Case Reportmentioning

confidence: 99%

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report

G S B Lima,

Nobrega,

Freua

et al. 2024

BMC Neurol

View full text Add to dashboard Cite

Background Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. Case report We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. Discussion Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.

show abstract

Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature

Cited by 13 publications

References 14 publications

Motor cortex analogue neurons in songbirds utilize Kv3 channels to generate ultranarrow spikes

Motor cortex analogue neurons in songbirds utilize Kv3 channels to generate ultranarrow spikes

Cortical Betz cells analogue in songbirds utilizes Kv3.1 to generate ultranarrow spikes

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report

Contact Info

Product

Resources

About