GOSR2: a progressive myoclonus epilepsy gene

Leanne M Dibbens; Guido Rubboli

doi:10.1684/epd.2016.0848

GOSR2: a progressive myoclonus epilepsy gene

9 Citations (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.

Original language	English
Journal	Epileptic Disorders
Volume	18
Issue number	Suppl. 2
Pages (from-to)	S111-S114
ISSN	1294-9361
DOIs	https://doi.org/10.1684/epd.2016.0848
Publication status	Published - 2016
Externally published	Yes

Keywords

ataxia
GOSR2
myoclonus
photosensitivity
Progressive myoclonus epilepsy
scoliosis

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10.1684/epd.2016.0848

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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.",

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

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doi = "10.1684/epd.2016.0848",

language = "English",

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pages = "S111--S114",

journal = "Epileptic Disorders",

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T1 - GOSR2

T2 - a progressive myoclonus epilepsy gene

AU - Dibbens, Leanne M

AU - Rubboli, Guido

PY - 2016

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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.

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KW - GOSR2

KW - myoclonus

KW - photosensitivity

KW - Progressive myoclonus epilepsy

KW - scoliosis

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DO - 10.1684/epd.2016.0848

M3 - Review

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SN - 1294-9361

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SP - S111-S114

JO - Epileptic Disorders

JF - Epileptic Disorders

IS - Suppl. 2

ER -

GOSR2: a progressive myoclonus epilepsy gene

Abstract

Keywords

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