Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

scientific article published on 5 April 2017

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/ANA.24929
P698PubMed publication ID28380698

P50authorSamuel BerkovicQ7410915
Amos D. KorczynQ37386865
Steven PetrouQ63975555
Simone MandelstamQ72215279
Anetta Lasek-BalQ87624689
Carlo Di BonaventuraQ89907358
Laura LicchettaQ90708497
Silvana FranceschettiQ114404486
Rachel StraussbergQ114516029
Patrizia RiguzziQ117243153
Roberto MichelucciQ39829794
João MassanoQ42405960
Laura CanafogliaQ46817292
Francesca BisulliQ48133425
Guido RubboliQ48684163
Paolo TinuperQ56454648
Elena GardellaQ56480435
Karen OliverQ56528768
Christopher A ReidQ56850335
Rikke S MøllerQ61819699
P2093author name stringDaniel 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
P2860cites workFrequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)Q24299351
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosisQ24319132
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsQ24324107
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardationQ24538696
Rate of de novo mutations and the importance of father's age to disease riskQ24632353
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)Q28250990
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisQ28270717
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesQ28299239
Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsyQ30622871
High temperature sensitivity is intrinsic to voltage-gated potassium channelsQ34010201
Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firingQ34086958
Juvenile onset Huntington's disease--clinical and research perspectives.Q34091006
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyQ34448160
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaQ35136950
Spinocerebellar ataxia with mental retardation (SCA13).Q36128450
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationQ36607672
Abnormal oscillatory synchronisation in the motor system leads to impaired movement.Q37067771
Recommendations for the clinical use of somatosensory-evoked potentials.Q37166519
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.Q37298549
Progressive myoclonic epilepsies: definitive and still undetermined causes.Q37567498
The clinical maze of mitochondrial neurologyQ37648911
Progressive myoclonic ataxia (the Ramsay Hunt syndrome).Q37826468
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.Q38210178
Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.Q39202883
Generator mechanisms of giant somatosensory evoked potentials in cortical reflex myoclonusQ39306245
Progressive myoclonus epilepsies: specific causes and diagnosisQ39589683
Microstructural changes in thickened corpus callosum in children: contribution of magnetic resonance diffusion tensor imaging.Q41735223
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.Q44321519
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationQ46732385
Facilitation of rhythmic events in progressive myoclonus epilepsy: a transcranial magnetic stimulation studyQ48199051
Coherent cortical and muscle discharge in cortical myoclonusQ48254130
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 studyQ48281484
Rhythmic cortical myoclonus in Niemann-Pick disease type C.Q48508779
Cortical tremor: a variant of cortical reflex myoclonusQ48888249
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorderQ50282940
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
P433issue5
P304page(s)677-689
P577publication date2017-04-05
P1433published inAnnals of NeurologyQ564414
P1476titleMyoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
P478volume81

Reverse relations

cites work (P2860)
Q93087864A Kinetic Map of the Homomeric Voltage-Gated Potassium Channel (Kv) Family
Q92234279Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations
Q47269323Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
Q92234341KCNC1-related disorders: new de novo variants expand the phenotypic spectrum
Q57180375KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
Q90071795Kv2.1 voltage-gated potassium channels in developmental perspective

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