Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia (Q64039544)

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English	Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia	No description defined

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instance of

scholarly article

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title

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia (English)

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main subject

dyskinesia

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based on heuristic

inferred from title

author

Detelina Grozeva

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3

object named as

Detelina Grozeva

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Ingrid Scheffer

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23

object named as

Ingrid E Scheffer

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Michael Simpson

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Michael A Simpson

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12

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Annapurna Poduri

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21

object named as

Annapurna Poduri

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Heather C. Mefford

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22

object named as

Heather C Mefford

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Eamonn R Maher

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32

object named as

Eamonn R Maher

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author name string

Kathleen M Gorman

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1

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Esther Meyer

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2

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Egidio Spinelli

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4

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Amy McTague

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5

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Alba Sanchis-Juan

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6

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Keren J Carss

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7

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Emily Bryant

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8

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Adi Reich

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9

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Amy L Schneider

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10

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Ronit M Pressler

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11

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Geoff D Debelle

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13

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Evangeline Wassmer

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14

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Jenny Morton

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15

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Diana Sieciechowicz

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16

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Eric Jan-Kamsteeg

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17

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Alex R Paciorkowski

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18

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Mary D King

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19

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J Helen Cross

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Tobias B Haack

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Gary McCullagh

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John J Millichap

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Gemma L Carvill

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30

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Jill Clayton-Smith

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F Lucy Raymond

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33

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Manju A Kurian

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34

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language of work or name

English

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publication date

2 May 2019

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published in

American Journal of Human Genetics

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volume

104

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issue

5

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page(s)

948-956

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cites work

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

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Selective N-type neuronal voltage-sensitive calcium channel blocker, SNX-111, produces spinal antinociception in rat models of acute, persistent and neuropathic pain.

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Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk

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SNARE protein recycling by αSNAP and βSNAP supports synaptic vesicle priming

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G protein modulation of CaV2 voltage-gated calcium channels

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The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population

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A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

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Voltage-Gated Calcium Channels

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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

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De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

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Managing clinically significant findings in research: the UK10K example

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Neuronal voltage-gated calcium channels: structure, function, and dysfunction

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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

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PubMed

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The phenotypic spectrum of SCN8A encephalopathy

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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

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CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

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The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

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GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

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PubMed

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

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based on heuristic

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Delineation of the movement disorders associated withFOXG1mutations: Table 1

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based on heuristic

inferred from PubMed ID database lookup

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

1 reference

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PubMed

reference URL

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Analysis of protein-coding genetic variation in 60,706 humans

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It's not just the basal ganglia: Cerebellum as a target for dystonia therapeutics

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reference URL

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12 December 2020

based on heuristic

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Presynaptic Calcium Channels

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PubMed

reference URL

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12 December 2020

based on heuristic

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PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

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12 December 2020

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Classification of the epilepsies: New concepts for discussion and debate-Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30982612

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/30982612

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2019.03.005

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PMC publication ID

6507039

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PubMed publication ID

30982612

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