Research graph
References from <scp> <i>SLC7A6OS</i> </scp> Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago. Local targets link to admitted publications; unresolved targets remain external evidence.
Progressive myoclonus epilepsies: specific causes and diagnosis
10.1056/nejm198607313150506 · 1986 · External reference
Classification of progressive myoclonus epilepsies and related disorders
10.1002/ana.410280129 · 1990 · External reference
ILAE genetics literacy series: progressive myoclonus epilepsies
10.1002/epd2.20152 · 2023 · External reference
Progressive myoclonus epilepsies: diagnostic yield with next‐generation sequencing in previously unsolved cases
10.1212/nxg.0000000000000641 · 2021 · External reference
Clinical picture of EPM1‐Unverricht‐Lundborg disease
10.1111/j.1528-1167.2008.01546.x · 2008 · External reference
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
10.1038/386847a0 · 1997 · External reference
Haplotype study of West European and North African Unverricht‐Lundborg chromosomes: evidence for a few founder mutations
10.1007/s00439-002-0755-x · 2002 · External reference
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
10.1093/brain/awt021 · 2013 · External reference
A mutation in the Golgi Qb‐SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
10.1016/j.ajhg.2011.04.011 · 2011 · External reference
Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS
10.1002/ana.25941 · 2021 · External reference
Fast and accurate shared segment detection and relatedness estimation in un‐phased genetic data via TRUFFLE
10.1016/j.ajhg.2019.05.007 · 2019 · External reference
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi‐Linder syndrome
10.1086/504640 · 2006 · External reference
Dating rare mutations from small samples with dense marker data
10.1534/genetics.114.164616 · 2014 · External reference
Catamenial epilepsy: update on prevalence, pathophysiology and treatment from the findings of the NIH progesterone treatment trial
10.1016/j.seizure.2015.02.024 · 2015 · External reference
Myoclonus epilepsy and ataxia due to KCNC1 mutation: analysis of 20 cases and K(+) channel properties
10.1002/ana.24929 · 2017 · External reference
Unverricht‐Lundborg disease, a condition with self‐limited progression: long‐term follow‐up of 20 patients
10.1111/j.1528-1167.2006.00553.x · 2006 · External reference
slc7a6os gene plays a critical role in defined areas of the developing CNS in zebrafish
10.1371/journal.pone.0119696 · 2015 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
ClinGen‐‐the Clinical Genome Resource
10.1056/nejmsr1406261 · 2015 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans
10.1038/s41586-020-2308-7 · 2020 · External reference
The ‘All of Us’ research program
10.1056/nejmsr1809937 · 2019 · External reference
Myoclonus epilepsy and ataxia due to KCNC1 mutation: analysis of 20 cases and K(+) channel properties
10.1002/ana.24929 · ExternalCitation · doi-reference
Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS
10.1002/ana.25941 · ExternalCitation · doi-reference
Classification of progressive myoclonus epilepsies and related disorders
10.1002/ana.410280129 · ExternalCitation · doi-reference
ILAE genetics literacy series: progressive myoclonus epilepsies
10.1002/epd2.20152 · ExternalCitation · doi-reference
Haplotype study of West European and North African Unverricht‐Lundborg chromosomes: evidence for a few founder mutations
10.1007/s00439-002-0755-x · ExternalCitation · doi-reference
A mutation in the Golgi Qb‐SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
10.1016/j.ajhg.2011.04.011 · ExternalCitation · doi-reference
Fast and accurate shared segment detection and relatedness estimation in un‐phased genetic data via TRUFFLE
10.1016/j.ajhg.2019.05.007 · ExternalCitation · doi-reference
Catamenial epilepsy: update on prevalence, pathophysiology and treatment from the findings of the NIH progesterone treatment trial
10.1016/j.seizure.2015.02.024 · ExternalCitation · doi-reference
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
10.1038/386847a0 · ExternalCitation · doi-reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · ExternalCitation · doi-reference
The mutational constraint spectrum quantified from variation in 141,456 humans
10.1038/s41586-020-2308-7 · ExternalCitation · doi-reference
Progressive myoclonus epilepsies: specific causes and diagnosis
10.1056/nejm198607313150506 · ExternalCitation · doi-reference
ClinGen‐‐the Clinical Genome Resource
10.1056/nejmsr1406261 · ExternalCitation · doi-reference
The ‘All of Us’ research program
10.1056/nejmsr1809937 · ExternalCitation · doi-reference
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi‐Linder syndrome
10.1086/504640 · ExternalCitation · doi-reference
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
10.1093/brain/awt021 · ExternalCitation · doi-reference
Unverricht‐Lundborg disease, a condition with self‐limited progression: long‐term follow‐up of 20 patients
10.1111/j.1528-1167.2006.00553.x · ExternalCitation · doi-reference
Clinical picture of EPM1‐Unverricht‐Lundborg disease
10.1111/j.1528-1167.2008.01546.x · ExternalCitation · doi-reference
Progressive myoclonus epilepsies: diagnostic yield with next‐generation sequencing in previously unsolved cases
10.1212/nxg.0000000000000641 · ExternalCitation · doi-reference
slc7a6os gene plays a critical role in defined areas of the developing CNS in zebrafish
10.1371/journal.pone.0119696 · ExternalCitation · doi-reference
Dating rare mutations from small samples with dense marker data
10.1534/genetics.114.164616 · ExternalCitation · doi-reference
