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Participant 079


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Female, age 12 with epileptic encephalopathy caused by a genetic change in the GABRB2 gene

Date of Report

Jun 26, 2018

Description

The participant’s parents first noticed delays in her motor development at 6 months. These delays, and other delays in her development, became more noticeable over time. At 7 years old, she began to have frequent drop attacks, which were eventually identified as seizures. She was started on valproic acid, which did not help her symptoms. At 8 years old, she had an unexplained episode of constant seizures, which required admission to the hospital. The seizures were finally stopped with a 2-day pharmacologic coma. Since this time, she has been on Keppra and has not had further seizures.

Some of the participant’s other symptoms include involuntary muscle contractions (dystonia), frequent falls, and poor weight gain. Overall, she has been gaining skills over time. She is very pleasant and cooperative. She does not use words to communicate, but rather guides others to what she needs.

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Seizures
  • Involuntary muscle contractions (dystonia)
  • Difficulty controlling voluntary movements (truncal ataxia)
  • Spasticity
  • Frequent falls
  • Gait disturbance and imbalance
  • Overactive reflexes in lower limbs (lower limb hyperreflexia)
  • Autism
  • Growth delay
  • Difficulty growing (failure to thrive)
  • Decreased body weight
  • Feeding difficulties
  • Malabsorption
  • Gluten intolerance
  • Low muscle tone (muscular hypotonia)
  • Small head size (microcephaly)
  • Visual impairment
  • Repetitive, uncontrolled eye movements (nystagmus)
  • Crossed eyes (strabismus)
  • Eye turned inward (esotropia)
  • Lazy eye (amblyopia)
  • Abnormal electroretinogram
  • Thick eyebrow
  • Course facial features
  • High palate
  • Low hairline (low anterior hairline)
  • Poor head control
  • Long slender fingers (arachnodactyly)
  • Tapered finger
  • Joint hypermobility
  • Involuntary urination (enuresis)
  • Chronic constipation
Current Treatments
  • Keppra – seizures
Prior Treatments
  • Valproic acid – seizures
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Congenital disorder of glycosylation
  • Microdeletion/duplication syndrome
  • Lysosomal storage disorder
  • Metabolic condition
  • Rett syndrome
Other Photographs
Genetic Variants of Interest

 

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr5:160758063
NM_021911.2
c.904G>A
p.Val302Met
Contact

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