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Participant 173


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Female, age 14 with severe epileptic encephalopathy, global developmental delay, and clumsy, broad-based gait
Date of Report

Sep 01, 2020

Description

The participant experienced early gross motor developmental delays. During her first two years of life, she had language delays and low muscle tone (hypotonia). She sat at 12 months and walked at 24 months. She began to experience severe epileptic encephalopathy starting at age 3. Specifically, the participant experiences multiple types of generalized seizures, which include myoclonic-tonic, atypical absence, and atonic head drops. An MRI at age 9 revealed brain abnormalities of the hippocampus, cerebral cortex, and cerebellum. Currently, the patient walks with a widely spaced gait and is clumsy. She is able to verbally communicate but after a recent hospitalization, she has had regression of some of her verbal skills and currently only uses a few words.

Symptoms / Signs
  • Global developmental delay
  • Delayed gross motor development
  • Delayed speech and language development
  • Developmental regression
  • Seizures (generalized myoclonic-atonic)
  • Brain disease with seizures (severe epileptic encephalopathy)
  • Autistic behavior
  • Brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy
  • thick cerebral cortex, abnormal brain morphology, dysgenesis of the hippocampus)
  • Distorted or blurry vision (astigmatism)
  • Low muscle tone (generalized hypotonia)
  • Walks with legs spaced far apart (broad-based gait)
  • Clumsiness
  • Mitochondrial deficiency (decreased activity of mitochondrial complex II and mitochondrial complex I)
Current Treatments
  • Ativan (rescue drug), Clonazepam, CBD oil, Rufinamide – seizures
Prior Treatments
  • Clobazam, Felbamate, Hydrocortisone, IVIG, Lamotrigine, Midazolam (rescue drug), Oxcarbazepine, Phenobarbital, Stiripentol, Topiramate, Valproic Acid, Ketogenic diet- seizures
Considered treatments
  • Vagus Nerve Stimulator (VNS)
  • Corpus callosotomy surgery
Previously Considered Diagnoses
  • Angelman syndrome/Prader Willi syndrome
  • Lennox-Gastaut syndrome
  • Metabolic disorders
  • Mitochondrial disorders
  • Microdeletion/duplication disorders
  • Neurotransmitter disorders
  • Rett syndrome
  • SCN1A seizure disorders (Dravet syndrome)
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
de novo
Chr5: 153835504
NM_024632.5
c.468G>C
p.Glu156Asp
Contact

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