Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

@article{Kurian2018FocalCM,
  title={Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.},
  author={Mary Kurian and Christian M Korff and Emmanuelle Ranza and Andrea Bernasconi and Anja L{\"u}bbig and Srishti Nangia and Gian Paolo Paolo Ramelli and Gabriele Christine Wohlrab and D R Nordli and Thomas C. Bast},
  journal={Developmental medicine and child neurology},
  year={2018},
  volume={60 1},
  pages={
          100-105
        }
}
In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters… CONTINUE READING
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