GOSR2: a progressive myoclonus epilepsy gene

Leanne M Dibbens; Guido Rubboli

doi:10.1684/epd.2016.0848

GOSR2: a progressive myoclonus epilepsy gene

9 Citationer (Scopus)

Abstract

GOSR2-associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the GOSR2 protein to localize to the cis-Golgi. The main clinical features of the GOSR2-associated PME are early-onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. Severe photosensitive myoclonus is a common feature. GOSR2-associated PME is a rare disease with very few cases reported so far and it can be expected that the identification of further patients will contribute to expanding the phenotype and genotype of this condition.

Originalsprog	Engelsk
Tidsskrift	Epileptic Disorders
Vol/bind	18
Udgave nummer	Suppl. 2
Sider (fra-til)	S111-S114
ISSN	1294-9361
DOI	https://doi.org/10.1684/epd.2016.0848
Status	Udgivet - 2016
Udgivet eksternt	Ja

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10.1684/epd.2016.0848

Citationsformater

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title = "GOSR2: a progressive myoclonus epilepsy gene",

abstract = "GOSR2-associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the GOSR2 protein to localize to the cis-Golgi. The main clinical features of the GOSR2-associated PME are early-onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. Severe photosensitive myoclonus is a common feature. GOSR2-associated PME is a rare disease with very few cases reported so far and it can be expected that the identification of further patients will contribute to expanding the phenotype and genotype of this condition.",

keywords = "ataxia, GOSR2, myoclonus, photosensitivity, Progressive myoclonus epilepsy, scoliosis",

author = "Dibbens, {Leanne M} and Guido Rubboli",

year = "2016",

doi = "10.1684/epd.2016.0848",

language = "English",

volume = "18",

pages = "S111--S114",

journal = "Epileptic Disorders",

issn = "1294-9361",

publisher = "JohnLibbey Eurotext",

number = "Suppl. 2",

}

TY - JOUR

T1 - GOSR2

T2 - a progressive myoclonus epilepsy gene

AU - Dibbens, Leanne M

AU - Rubboli, Guido

PY - 2016

Y1 - 2016

N2 - GOSR2-associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the GOSR2 protein to localize to the cis-Golgi. The main clinical features of the GOSR2-associated PME are early-onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. Severe photosensitive myoclonus is a common feature. GOSR2-associated PME is a rare disease with very few cases reported so far and it can be expected that the identification of further patients will contribute to expanding the phenotype and genotype of this condition.

AB - GOSR2-associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the GOSR2 protein to localize to the cis-Golgi. The main clinical features of the GOSR2-associated PME are early-onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. Severe photosensitive myoclonus is a common feature. GOSR2-associated PME is a rare disease with very few cases reported so far and it can be expected that the identification of further patients will contribute to expanding the phenotype and genotype of this condition.

KW - ataxia

KW - GOSR2

KW - myoclonus

KW - photosensitivity

KW - Progressive myoclonus epilepsy

KW - scoliosis

U2 - 10.1684/epd.2016.0848

DO - 10.1684/epd.2016.0848

M3 - Review

C2 - 27618868

AN - SCOPUS:84994140263

SN - 1294-9361

VL - 18

SP - S111-S114

JO - Epileptic Disorders

JF - Epileptic Disorders

IS - Suppl. 2

ER -

GOSR2: a progressive myoclonus epilepsy gene

Abstract

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