Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

@inproceedings{Martin2014ClinicalWS,
  title={Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis},
  author={Hilary C Martin and Grace Eunhae Kim and Alistair T Pagnamenta and Yoshiko Murakami and Gemma L Carvill and E. F. Meyer and R. R. Copley and Andrew Rimmer and Giulia Barcia and Matthew Fleming and Jack Kronengold and Maile R. Brown and Karl A Z Hudspith and John Broxholme and Alexander Kanapin and Jean-Baptiste Cazier and Taroh Kinoshita and Rima Nabbout and David B Bentley and Gil McVean and Sin{\'e}ad B. Heavin and Zenobia Zaiwalla and T. O. Mcshane and Heather C. Mefford and Deborah J. Shears and Helen Stewart and Manju Ann Kurian and Ingrid E. Scheffer and Edward T. Blair and Peter Donnelly and Leonard K Kaczmarek and Jenny C. Taylor},
  booktitle={Human molecular genetics},
  year={2014}
}
In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be associated with specific sub-phenotypes, but the diagnostic yield of this approach can be low. We… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 67 CITATIONS

Emerging role of the KCNT1 Slack channel in intellectual disability

  • Front. Cell. Neurosci.
  • 2014
VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

Shahad AlSaif, Muhammad Umair, Majid Alfadhel
  • Journal of central nervous system disease
  • 2019

FILTER CITATIONS BY YEAR

2014
2019

CITATION STATISTICS

  • 2 Highly Influenced Citations

  • Averaged 13 Citations per year over the last 3 years

References

Publications referenced by this paper.
SHOWING 1-10 OF 79 REFERENCES

Epileptic encephalopathies in infants and children.

  • Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
  • 2012
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Sarah Weckhuysen, Simone Mandelstam, +20 authors Peter de Jonghe
  • Annals of neurology
  • 2012
VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL

Similar Papers

Loading similar papers…