Late‐onset and Slow‐progressing Lafora Disease in Four Siblings with EPM2B Mutation

Baykan, Betül; Striano, Pasquale; Gianotti, Stefania; Bebek, Nerses; Gennaro, Elena Di; Gürses, Candan; Zara, Federico

doi:10.1111/j.1528-1167.2005.00272.x

Cited by 69 publications

(64 citation statements)

References 7 publications

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“…Because exon 1 of the EPM2A gene encodes the carbohydrate-binding domain, a role for this domain in the childhood onset symptoms was suspected [Ganesh et al, 2002b]. Although no such report exists for the subdomains of NHLRC1 gene, independent reports have demonstrated that LD patients with NHLRC1 mutations tend to live longer than those with EPM2A mutations [Baykan et al, 2005;Franceschetti et al, 2006;GomezAbad et al, 2005;Singh et al, 2006]. Based on these findings, Singh et al (2006) proposed that not all functions of laforin could be regulated by malin.…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

“…The figure also shows (bottom) the genomic organization of the NHLRC1 gene and locations of the large deletions associated with LD. Mutations were tabulated from the following PubMed-indexed English articles reporting the mutations [Baykan et al, 2005;Chan et al, 2003;Franceschetti et al, 2006;Gomez-Abad et al, 2005;Ianzano et al, 2004;Lohi et al, 2007;Singh et al, 2005Singh et al, , 2006Singh et al, , 2008Striano et al, 2008;Turbull et al, 2008]. Mutation numbering is based on GenBank reference protein sequence with accession number NP_940988.2.…”

Section: Clinical and Diagnostic Relevancementioning

confidence: 99%

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Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

2009

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Lafora disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy. LD patients manifest myoclonus and tonic-clonic seizures, visual hallucinations, and progressive neurologic deterioration beginning at 12 to 15 years of age. The two genes known to be associated with LD are EPM2A and NHLRC1. Mutations in at least one other as yet unknown gene also cause LD. The EMP2A encodes a protein phosphatase and NHLRC1 encodes an ubiquitin ligase. These two proteins interact with each other and, as a complex, are thought to regulate critical neuronal functions. Nearly 100 distinct mutations have been discovered in the two genes in over 200 independent LD families. Nearly half of them are missense mutations, and the deletion mutations account for one-quarter. Several reports have provided functional data for the mutant proteins and a few also provide genotype-phenotype correlations. In this review we provide an update on the spectrum of EPM2A and NHLRC1 mutations, and discuss their distribution in the patient population, genotype-phenotype correlations, and on the possible effect of disease mutations on the cellular functions of LD proteins.

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Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Section: Clinical and Diagnostic Relevancementioning

confidence: 99%

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

2009

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“…Mild brain atrophy has been described in 35–40% of patients with typical and mild Lafora disease with normal MRI in the remaining patients 5, 14. The transient MRI abnormalities of our patient may well have been caused by the intensive seizure activity because they were localized in the area with the highest seizure activity registered on EEG and had normalized after 3‐month follow‐up.…”

Section: Discussionmentioning

confidence: 51%

Unusual Course of Lafora Disease

et al. 2016

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SummaryA 42‐year‐old male was admitted for refractory status epilepticus. At the age of 25, he had been diagnosed with juvenile myoclonic epilepsy. He had a stable clinical course for over a decade until a recent deterioration of behavior and epilepsy. After exclusion of acquired disorders, diagnostic work‐up included application of next‐generation sequencing (NGS), with a gene panel targeting progressive myoclonic epilepsies. This resulted in the diagnosis Lafora disease resulting from compound heterozygous NHLRC1 pathogenic variants. Although these pathogenic variants may be associated with a variable phenotype, including both severe and mild clinical course, the clinical presentation of our patient at this age is very unusual for Lafora disease. Our case expands the phenotype spectrum of Lafora disease resulting from pathogenic NHLRC1 variants and illustrates the value of using NGS in clinical practice to lead to a rapid diagnosis and guide therapeutic options.

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“…Lafora hastalığı tipik olarak 12-15 yaşları arasında başlamakla beraber daha erken ve daha geç başlangıçlı varyantlar da bildirilmektedir. [1,2] …”

Section: Introductionunclassified

Lafora Disease: A Case Report

Doğan¹,

İlik²,

Çelik³

et al. 2016

Epilepsi

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Late‐onset and Slow‐progressing Lafora Disease in Four Siblings with EPM2B Mutation

Cited by 69 publications

References 7 publications

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

Unusual Course of Lafora Disease

Lafora Disease: A Case Report

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