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QuickView for hyperekplexia (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. ATAD1
  2. GLRB
  3. SLC6A5
  4. GLRA1
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. postsynaptic membrane
  2. GSE2770_TGFB_AND_IL4_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_2H_DN
  3. ATPase, AAA-type, conserved site
  4. TCGA_GLIOBLASTOMA_COPY_NUMBER_DN
  5. LIN_MELANOMA_COPY_NUMBER_DN
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Curated Studies

Most Correlated Studies

  1. OMIM - Hyperexplexia
  2. OMIM - Brain CNS Motor Neuron and other Neuropathy Disorders
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Literature

Most Relevant Literature

  1. Hyperekplexia: A Single-Center Experience.
  2. Generalized Stiffness in Hereditary Hyperekplexia Responsive to Trihexyphenidyl: A Novel Finding.
  3. Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutatio…
  4. Clinical and genetic analysis of three children with Hyperekplexia].
  5. Anesthetic Management of an Adult With Hyperekplexia Undergoing a Laparoscopic Colectomy: A Case Rep…
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Clinical Trials

Most Relevant Clinical Trials

  1. Hyperekplexia in Patients With CTNNB1 Mutation
  2. Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory
  3. Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing
  4. Baby Detect : Genomic Newborn Screening
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