Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans. (Q30374282)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27648459 AND SRC:MED&resulttype=core&format=json

23 March 2020

title

Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans (English)

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23 March 2020

1 reference

9

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23 March 2020

John Manak

10

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23 March 2020

author name string

Salleh N Ehaideb

1

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23 March 2020

Elizabeth A Wignall

2

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23 March 2020

Junko Kasuya

3

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23 March 2020

William H Evans

4

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23 March 2020

Atulya Iyengar

5

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23 March 2020

Haley L Koerselman

6

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23 March 2020

Anthony J Lilienthal

7

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23 March 2020

Alexander G Bassuk

8

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23 March 2020

publication date

3 August 2016

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Annals of clinical and translational neurology

23 March 2020

published in

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23 March 2020

volume

3

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23 March 2020

issue

9

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23 March 2020

page(s)

695-707

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Model systems for studying cellular mechanisms of SCN1A-related epilepsy

23 March 2020

cites work

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Mutations of the Calcium Channel Gene cacophony Suppress Seizures in Drosophila

20 June 2018

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Drosophila sodium channel mutations: Contributions to seizure-susceptibility

20 June 2018

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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

20 June 2018

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Flight and seizure motor patterns in Drosophila mutants: simultaneous acoustic and electrophysiological recordings of wing beats and flight muscle activity

20 June 2018

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prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies

20 June 2018

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Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current

20 June 2018

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PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

20 June 2018

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20 June 2018

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Drosophila as a model for intractable epilepsy: gilgamesh suppresses seizures in para(bss1) heterozygote flies

20 June 2018

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Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis

20 June 2018

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A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure

20 June 2018

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Open source tracking and analysis of adult Drosophila locomotion in Buridan's paradigm with and without visual targets

20 June 2018

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Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

20 June 2018

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20 June 2018

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Seizure and epilepsy: studies of seizure disorders in Drosophila

20 June 2018

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The Drosophila gene disruption project: progress using transposons with distinctive site specificities

20 June 2018

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Transcriptomic analysis in a Drosophila model identifies previously implicated and novel pathways in the therapeutic mechanism in neuropsychiatric disorders

20 June 2018

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Mutations in prickle orthologs cause seizures in flies, mice, and humans

20 June 2018

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20 June 2018

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Drosophila as a model for epilepsy: bss is a gain-of-function mutation in the para sodium channel gene that leads to seizures

20 June 2018

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A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice

20 June 2018

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20 June 2018

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20 June 2018

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Molecular dissection of Drosophila Prickle isoforms distinguishes their essential and overlapping roles in planar cell polarity.

20 June 2018

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A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

20 June 2018

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Mutation of Drosophila focal adhesion kinase induces bang-sensitive behavior and disrupts glial function, axonal conduction and synaptic transmission

20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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The Drosophila slamdance gene: a mutation in an aminopeptidase can cause seizure, paralysis and neuronal failure

20 June 2018

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The role of vision and proprioception in the aversion of rats to the open arms of an elevated plus-maze

20 June 2018

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Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice

20 June 2018

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A novel leg-shaking Drosophila mutant defective in a voltage-gated K( )current and hypersensitive to reactive oxygen species.

20 June 2018

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The balance between isoforms of the prickle LIM domain protein is critical for planar polarity in Drosophila imaginal discs

20 June 2018

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Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

20 June 2018

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Seizures and failures in the giant fiber pathway of Drosophila bang- sensitive paralytic mutants

20 June 2018

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The behavior of four neurological mutants of Drosophila

20 June 2018

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Temperature-sensitive mutations in Drosophila melanogaster. VII. A mutation (para-ts) causing reversible adult paralysis

20 June 2018

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Action potentials in normal and Shaker mutant Drosophila.

20 June 2018

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Thigmotaxis as a test for anxiolytic activity in rats

20 June 2018

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Effects of floor surface and environmental illumination on exploratory activity in the elevated plus-maze

20 June 2018

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Molecular analysis of the para locus, a sodium channel gene in Drosophila

20 June 2018

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Cloning of genomic and complementary DNA from Shaker, a putative potassium channel gene from Drosophila

20 June 2018

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Temperature-induced seizure and frequency-dependent neuromuscular block in a ts mutant of Drosophila

20 June 2018

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Genetic modifications of seizure susceptibility and expression by altered excitability in Drosophila Na( ) and K( ) channel mutants.

20 June 2018

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21 January 2018

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Vibrissal sense is not the main sensory modality in rat exploratory behavior in the elevated plus-maze

21 January 2018

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The Drosophila easily shocked gene: a mutation in a phospholipid synthetic pathway causes seizure, neuronal failure, and paralysis.

21 January 2018

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Neuronal control of Drosophila walking direction.

21 January 2018

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A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

21 January 2018

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Electroconvulsive seizure behavior in Drosophila: analysis of the physiological repertoire underlying a stereotyped action pattern in bang-sensitive mutants.

21 January 2018

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A computer-assisted system for reconstructing and interpreting the dynamic three-dimensional relationships of the outer surface, nucleus and pseudopods of crawling cells.

26 November 2018

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Coordination of legs during straight walking and turning in Drosophila melanogaster

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27648459

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ACN3.334

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27648459 AND SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27648459 AND SRC:MED&resulttype=core&format=json

23 March 2020

PubMed publication ID

27648459

1 reference