Hereditary Channelopathies in Neurology (Q37786254)

23 August 2017

title

Hereditary channelopathies in neurology (English)

1 reference

23 August 2017

Hereditary Channelopathies in Neurology (English)

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

8 July 2024

1

Karin Jurkat-Rott

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author name string

Holger Lerche

2

1 reference

23 August 2017

Yvonne Weber

3

1 reference

23 August 2017

Frank Lehmann-Horn

4

1 reference

23 August 2017

language of work or name

English

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publication date

1 January 2010

1 reference

full work available at URL

23 August 2017

http://link.springer.com/content/pdf/10.1007/978-90-481-9485-8_18

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Advances in Experimental Medicine and Biology

8 July 2024

published in

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23 August 2017

volume

686

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23 August 2017

page(s)

305-334

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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

23 August 2017

cites work

1 reference

9 February 2024

https://opencitations.net/index/api/v1/citations/10.1038/NG1121

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

1

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

8 July 2024

2

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Myotonia congenita in northern Finland: an epidemiological and genetic study

8 July 2024

3

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

8 July 2024

6

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

8 July 2024

7

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

8 July 2024

8

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

8 July 2024

9

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats

8 July 2024

10

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.

8 July 2024

11

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel

8 July 2024

12

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

8 July 2024

13

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

8 July 2024

14

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Detecting polymorphisms and mutations in candidate genes

8 July 2024

15

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

8 July 2024

16

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

An SCN9A channelopathy causes congenital inability to experience pain

8 July 2024

17

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

8 July 2024

18

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

8 July 2024

19

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

8 July 2024

20

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies

8 July 2024

21

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

8 July 2024

22

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants

8 July 2024

23

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Thyroid function and periodic paralysis

8 July 2024

24

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel

8 July 2024

25

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

8 July 2024

26

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

8 July 2024

27

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

8 July 2024

28

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

8 July 2024

29

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita

8 July 2024

30

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

8 July 2024

31

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

8 July 2024

32

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

8 July 2024

33

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

8 July 2024

34

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

8 July 2024

36

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota

8 July 2024

37

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

8 July 2024

38

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Sodium-channel defects in benign familial neonatal-infantile seizures

8 July 2024

39

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

8 July 2024

40

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents

8 July 2024

41

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

8 July 2024

Multi-minicore Disease

42

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

8 July 2024

43

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Muscle channelopathies and critical points in functional and genetic studies

8 July 2024

44

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

8 July 2024

45

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

8 July 2024

46

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Divergent sodium channel defects in familial hemiplegic migraine

8 July 2024

47

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy

8 July 2024

49

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

The skeletal muscle chloride channel in dominant and recessive human myotonia

8 July 2024

50

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

8 July 2024

51

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Neurological disorders caused by inherited ion-channel mutations

8 July 2024

52

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel

8 July 2024

53

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia

8 July 2024

54

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Voltage-gated ion channels and hereditary disease

8 July 2024

55

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Membrane defects in paramyotonia congenita with and without myotonia in a warm environment.

8 July 2024

56

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters

8 July 2024

57

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

8 July 2024

59

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle

8 July 2024

60

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Ion channel defects in idiopathic epilepsies

8 July 2024

61

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

8 July 2024

62

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

8 July 2024

63

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Nervous system KV7 disorders: breakdown of a subthreshold brake

8 July 2024

64

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Sodium channel mutations in epilepsy and other neurological disorders

8 July 2024

66

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

8 July 2024

67

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation

8 July 2024

68

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy

8 July 2024

69

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

8 July 2024

70

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

8 July 2024

72

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

8 July 2024

73

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

8 July 2024

74

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mechanisms of human inherited epilepsies

8 July 2024

75

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

8 July 2024

76

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis

8 July 2024

77

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Effects of temperature on slow and fast inactivation of rat skeletal muscle Na(+) channels

8 July 2024

78

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant

8 July 2024

79

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

8 July 2024

80

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

8 July 2024

81

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Andersen's syndrome: A distinct periodic paralysis

8 July 2024

82

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

8 July 2024

83

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

8 July 2024

84

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

8 July 2024

85

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

8 July 2024

87

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

8 July 2024

88

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Gating pore current in an inherited ion channelopathy

8 July 2024

89

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

8 July 2024

90

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Genetic mechanisms that underlie epilepsy

8 July 2024

91

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

8 July 2024

92

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Lack of association of the potassium channel–associated peptide MiRP2-R83H variant with periodic paralysis

8 July 2024

93

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

8 July 2024

94

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore

8 July 2024

95

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Isolated eyelid closure myotonia in two families with sodium channel myotonia

8 July 2024

96

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

8 July 2024

97

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

8 July 2024

98

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

8 July 2024

99

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

8 July 2024

100

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

8 July 2024

101

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Focal caspase activation underlies the endplate myopathy in slow-channel syndrome

8 July 2024

102

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity

8 July 2024

103

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology

8 July 2024

104

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

8 July 2024

105

28

49

RH Wallace

2001

1 reference

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Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

8 July 2024

106

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia

8 July 2024

107

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness

8 July 2024

108

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation

8 July 2024

109

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations

8 July 2024

110

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy

8 July 2024

111

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Hyperekplexia: a treatable neurogenetic disease

8 July 2024

112

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

8 July 2024

113

1 reference

https://api.crossref.org/works/10.1007/978-90-481-9485-8_18

8 July 2024

Identifiers

1 reference

23 August 2017

1 reference