1 Ocak 2021 Dergi makalesi Açık Erişim

Haryanyan, Garen; Ozdemir, Ozkan; Tutkavul, Kemal; Dervent, Aysin; Ayta, Semih; Ozkara, Cigdem; Salman, Baris; Yucesan, Emrah; Kesim, Yesim; Susgun, Seda; Ozbek, Ugur; Baykan, Betul; Ugur Iseri, Sibel A.; Bebek, Nerses

JSON-LD (schema.org)

{
  "@context": "https://schema.org/", 
  "@id": 236974, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "name": "Haryanyan, Garen"
    }, 
    {
      "@type": "Person", 
      "name": "Ozdemir, Ozkan"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Hlth Sci, Istanbul Haydarpasa Numune Educ & Res Hosp, Dept Neurol, Istanbul, Turkey", 
      "name": "Tutkavul, Kemal"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Cerrahpasa Fac Med, Dept Neurol, Pediat Neurol, Istanbul, Turkey", 
      "name": "Dervent, Aysin"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Haseki Training & Res Hosp, Dept Pediat, Child Neurol Unit, Istanbul, Turkey", 
      "name": "Ayta, Semih"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ Cerrahpasa, Cerrahpasa Med Fac, Dept Neurol & Clin Neurophysiol, Istanbul, Turkey", 
      "name": "Ozkara, Cigdem"
    }, 
    {
      "@type": "Person", 
      "name": "Salman, Baris"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Bezmialem Vakif Univ, Dept Med Biol, Fac Med, Istanbul, Turkey", 
      "name": "Yucesan, Emrah"
    }, 
    {
      "@type": "Person", 
      "name": "Kesim, Yesim"
    }, 
    {
      "@type": "Person", 
      "name": "Susgun, Seda"
    }, 
    {
      "@type": "Person", 
      "name": "Ozbek, Ugur"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Dept Neurol & Clin Neurophysiol, Istanbul Fac Med, Istanbul, Turkey", 
      "name": "Baykan, Betul"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Genet, Istanbul, Turkey", 
      "name": "Ugur Iseri, Sibel A."
    }, 
    {
      "@type": "Person", 
      "name": "Bebek, Nerses"
    }
  ], 
  "datePublished": "2021-01-01", 
  "description": "Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. LD is generally accepted as having a homogenous clinical course with no considerable differences between EPM2A or NHLRC1 associated forms. Nevertheless, late-onset and slow progressing forms of the disease have also been reported. Herein, we have performed clinical and genetic analyses of 14 LD patients from 12 different families and identified 8 distinct biallelic variations in these patients. Five of these variations were novel and/or associated with the LD phenotype for the first time. Interestingly, almost half of the cases were homozygous for the rare rs769301934 (NM_198586.3(NHLRC1): c.436 G > A; p.(Asp146Asn)) allele in NHLRC1. A less severe phenotype with an onset at a later age may be the reason for the biased inflation of this variant, which is already present in the human gene pool and can hence arise in the homozygous form in populations with increased parental consanguinity.", 
  "headline": "The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey", 
  "identifier": 236974, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey", 
  "url": "https://aperta.ulakbim.gov.tr/record/236974"
}