Selected article for: "early onset time and onset time"
Author: Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk
Title: In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
  • Document date: 2018_12_13
    • ID: j5jrpbst_33
    Snippet: Epileptic encephalopathies are a group of severe, early-onset seizure disorders with consistent EEG abnormalities that over time interfere with development and cause cognitive decline (Covanis, 2012) . The Epi4k dataset contains exome sequence from 264 trios that include a proband with epileptic encephalopathy, either Lennox-Gastaut Syndrome (LGS) or Infantile Spasms (IS). LGS is characterized by frequent, mixed epileptic seizures that arise most.....
    Document: Epileptic encephalopathies are a group of severe, early-onset seizure disorders with consistent EEG abnormalities that over time interfere with development and cause cognitive decline (Covanis, 2012) . The Epi4k dataset contains exome sequence from 264 trios that include a proband with epileptic encephalopathy, either Lennox-Gastaut Syndrome (LGS) or Infantile Spasms (IS). LGS is characterized by frequent, mixed epileptic seizures that arise most frequently between the ages of 3 and 5 (Amrutkar and Riel-Romero, 2018) . IS occurs during the first year of life and is cryptic in its presentation, with mild head bobbing and is often not detected until the seizures have caused significant neurological damage (Kossoff, 2010) . IS often progress into LGS over time.

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