(Q34091858)

31 July 2017

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel (English)

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31 July 2017

7

M G Hanna

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31 July 2017

A Jouvenceau

1

1 reference

31 July 2017

L H Eunson

2

1 reference

31 July 2017

A Spauschus

3

1 reference

31 July 2017

V Ramesh

4

1 reference

31 July 2017

S M Zuberi

5

1 reference

31 July 2017

D M Kullmann

6

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31 July 2017

language of work or name

English

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publication date

1 September 2001

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31 July 2017

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31 July 2017

358

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31 July 2017

801-807

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31 July 2017

9284

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Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Ataxic mouse mutants and molecular mechanisms of absence epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Hereditary paroxysmal ataxia: Response to acetazolamide

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Magnetic Resonance Imaging in Familial Paroxysmal Ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Progressive ataxia due to a missense mutation in a calcium-channel gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Primary structure and functional expression from complementary DNA of a brain calcium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Structure and regulation of voltage-gated Ca2+ channels

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Essential Ca(2+)-binding motif for Ca(2+)-sensitive inactivation of L-type Ca2+ channels

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Evidence for a 95 kDa short form of the alpha1A subunit associated with the omega-conotoxin MVIIC receptor of the P/Q-type Ca2+ channels

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

L-type calcium channels contribute to the tottering mouse dystonic episodes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

EEG findings in acetazolamide-responsive hereditary paroxysmal ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Participation of multiple calcium channel types in transmission at single climbing fiber to Purkinje cell synapses.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Reciprocal inhibitory connections and network synchrony in the mammalian thalamus.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Impaired neurotransmitter release and elevated threshold for cortical spreading depression in mice with mutations in the alpha1A subunit of P/Q type calcium channels

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2905971-2

7 January 2021

10.1016/S0140-6736(01)05971-2

Identifiers

DOI

1 reference

31 July 2017

1 reference