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hyperekplexia
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ATAD1
GLRB
SLC6A5
GLRA1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
postsynaptic membrane
GSE2770_TGFB_AND_IL4_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_2H_DN
ATPase, AAA-type, conserved site
TCGA_GLIOBLASTOMA_COPY_NUMBER_DN
LIN_MELANOMA_COPY_NUMBER_DN
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Curated Studies
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OMIM - Hyperexplexia
OMIM - Brain CNS Motor Neuron and other Neuropathy Disorders
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Literature
Most Relevant Literature
Anesthetic Management of an Adult With Hyperekplexia Undergoing a Laparoscopic Colectomy: A Case Rep…
Advances in hyperekplexia and other startle syndromes.
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant i…
Symptomatic hyperekplexia: an important clue to neurodegeneration in children.
Hyperekplexia: A Frequent Near Miss in Infants and Young Children.
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Clinical Trials
Most Relevant Clinical Trials
Hyperekplexia in Patients With CTNNB1 Mutation
Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory
Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing
Baby Detect : Genomic Newborn Screening
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