Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2 (Q24337176)

presynaptic membrane organization

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Alexis Brice

14

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Renzo Guerrini

16

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Davide Mei

13

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Alexander Zimprich

19

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Eva Reinthaler

2

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Salwa Eltawil

Salwa Eltawil

3

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Sherif Edris

Sherif Edris

9

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Fritz Zimprich

Friedrich Zimprich

17

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Suzanne Lesage

15

Suzanne Lesage

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author name string

Elisabeth Stogmann

1

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Mohammed A El Etribi

4

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Mahmoud Hemeda

5

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Nevine El Nahhas

6

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Ahmed M Gaber

7

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Amal Fouad

8

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Anna Benet-Pages

10

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Sebastian H Eck

11

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Ekaterina Pataraia

12

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Tim M Strom

Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons

18

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language of work or name

English

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publication date

April 2013

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published in

Brain

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volume

136

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issue

Pt 4

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page(s)

1155-60

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cites work

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TAG-1-deficient mice have marked elevation of adenosine A1 receptors in the hippocampus

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Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons

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Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

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Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.

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Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1

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Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

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Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification.

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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

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