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Participant 120


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Female, age 2 with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid

Date of Report

Mar 29, 2019

Description

When she was an infant, the participant was noticed to have low muscle tone (generalized hypotonia) and global developmental delay. Over time she began to develop involuntary movements (chorea), which progressed to seizures, first infantile spasms then generalized tonic seizures. Currently, these generalized tonic seizures occur every day, up to 60 times per day. These seizures have not been successfully controlled with typical treatments.

Symptoms / Signs
  • Profound global developmental delay
  • Elevated serum pipecolic acid
  • Seizures (infantile spasms, generalized tonic seizures)
  • Abnormal brain activity (EEG with continuous slow activity, multifocal epileptiform discharges)
  • Epileptic encephalopathy
  • Low muscle tone (generalized hypotonia)
  • Involuntary movements (chorea)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Myotonic dystrophy
  • Peroxisomal disorder
  • Prader Willi syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr3:42705885
NM_145166.3
c.2039A>G
p.E680G
Autosomal dominant
Chr19:58601451
NM_023926.4
c.184G>A
p.G62R
Contact

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