scholarly article | Q13442814 |
P356 | DOI | 10.1002/ANA.24929 |
P698 | PubMed publication ID | 28380698 |
P50 | author | Samuel Berkovic | Q7410915 |
Amos D. Korczyn | Q37386865 | ||
Steven Petrou | Q63975555 | ||
Simone Mandelstam | Q72215279 | ||
Anetta Lasek-Bal | Q87624689 | ||
Carlo Di Bonaventura | Q89907358 | ||
Laura Licchetta | Q90708497 | ||
Silvana Franceschetti | Q114404486 | ||
Rachel Straussberg | Q114516029 | ||
Patrizia Riguzzi | Q117243153 | ||
Roberto Michelucci | Q39829794 | ||
João Massano | Q42405960 | ||
Laura Canafoglia | Q46817292 | ||
Francesca Bisulli | Q48133425 | ||
Guido Rubboli | Q48684163 | ||
Paolo Tinuper | Q56454648 | ||
Elena Gardella | Q56480435 | ||
Karen Oliver | Q56528768 | ||
Christopher A Reid | Q56850335 | ||
Rikke S Møller | Q61819699 | ||
P2093 | author name string | Daniel Friedman | |
Bruria Ben-Zeev | |||
Eva Andermann | |||
Frederick Andermann | |||
Ferruccio Panzica | |||
Matthias Lindenau | |||
Felix Benninger | |||
Anna-Elina Lehesjoki | |||
Holger Lerche | |||
Zaid Afawi | |||
Elena Pasini | |||
Snezana Maljevic | |||
Francesca Ragona | |||
Arielle Crespel | |||
Carol J Milligan | |||
Bernt A Engelsen | |||
Mikko Muona | |||
Anna M Boguszewska-Chachulska | |||
Annette Wulf | |||
Krystyna Spodar | |||
P2860 | cites work | Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13) | Q24299351 |
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Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis | Q28270717 | ||
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes | Q28299239 | ||
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High temperature sensitivity is intrinsic to voltage-gated potassium channels | Q34010201 | ||
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy | Q34448160 | ||
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Spinocerebellar ataxia with mental retardation (SCA13). | Q36128450 | ||
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Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. | Q37298549 | ||
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Coherent cortical and muscle discharge in cortical myoclonus | Q48254130 | ||
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. | Q48275662 | ||
Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study | Q48281484 | ||
Rhythmic cortical myoclonus in Niemann-Pick disease type C. | Q48508779 | ||
Cortical tremor: a variant of cortical reflex myoclonus | Q48888249 | ||
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder | Q50282940 | ||
Kv3.1 channels stimulate adult neural precursor cell proliferation and neuronal differentiation. | Q50483041 | ||
Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs. | Q50902921 | ||
Temperature dependence of human ether-a-go-go-related gene K+ currents. | Q51810570 | ||
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. | Q54331789 | ||
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. | Q54457927 | ||
P433 | issue | 5 | |
P304 | page(s) | 677-689 | |
P577 | publication date | 2017-04-05 | |
P1433 | published in | Annals of Neurology | Q564414 |
P1476 | title | Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties | |
P478 | volume | 81 |
Q93087864 | A Kinetic Map of the Homomeric Voltage-Gated Potassium Channel (Kv) Family |
Q92234279 | Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations |
Q47269323 | Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies |
Q92234341 | KCNC1-related disorders: new de novo variants expand the phenotypic spectrum |
Q57180375 | KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect |
Q90071795 | Kv2.1 voltage-gated potassium channels in developmental perspective |
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