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Region Hovedstaden - en del af Københavns Universitetshospital

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


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  4. The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

    Publikation: Bidrag til tidsskriftKommentar/debatForskningpeer review

  • Rikke S Møller
  • Line H G Larsen
  • Katrine M Johannesen
  • Inga Talvik
  • Tiina Talvik
  • Ulvi Vaher
  • Maria J Miranda
  • Muhammad Farooq
  • Jens E K Nielsen
  • Lene Lavard Svendsen
  • Ditte B Kjelgaard
  • Karen M Linnet
  • Qin Hao
  • Peter Uldall
  • Mimoza Frangu
  • Niels Tommerup
  • Shahid M Baig
  • Uzma Abdullah
  • Alfred P Born
  • Pia Gellert
  • Marina Nikanorova
  • Kern Olofsson
  • Birgit Jepsen
  • Dragan Marjanovic
  • Lana I K Al-Zehhawi
  • Sofia J Peñalva
  • Bente Krag-Olsen
  • Klaus Brusgaard
  • Helle Hjalgrim
  • Guido Rubboli
  • Deb K Pal
  • Hans A Dahl
Vis graf over relationer

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease-causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes includingSCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2,andSTX1B. Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients with neonatal-onset epilepsies and EEs.

TidsskriftMolecular Syndromology
Udgave nummer4
Sider (fra-til)210-219
Antal sider10
StatusUdgivet - sep. 2016

ID: 48394606