background participants

Participant 175

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia)

Date of Report

Nov 10, 2020


At 17 months old, the participant began to have seizures (infantile spasms). At their worst, she was having seizures >50 times daily. The participant was treated with many different combinations of seizure medications and underwent a trial of ketogenic diet. At 2 years old she was still having seizures multiple times a day (atonic, tonic-clonic, and infantile spasms). After a corpus callosotomy (brain surgery to separate the connection between the left and right sides of the brain) and additional medication changes, she experienced a period of 10 months with no seizures. At 4 years old, she began having seizures again (tonic seizures and spasms), but they were successfully controlled by medication for 7 months. More recently, she has again been having seizures (tonic seizures and spasms) but notably has gone 2 years without tonic-clonic or atonic seizures.

The participant has global developmental delay that more severely affects her language skills than her motor skills.  She walked independently at 18 months of age.  She was diagnosed with autism at 3.5 years of age.

The participant also experiences episodes of mild metabolic acidosis (increased acidity of the blood) and problems with coordination (ataxia).

Symptoms / Signs
  • Autism
  • Seizures (tonic-clonic, atonic, myoclonic, infantile spasms)
  • Brain disease (encephalopathy)
  • Delayed speech and language development
  • Delayed motor development
  • Vision impairment (cerebral visual impairment suspected)
  • Decreased muscle tone (generalized hypotonia)
  • Intermittent problems with coordination (gait ataxia)
  • Walks with legs spaced far apart (broad-based gait)
  • Mildly high white blood cell count (leukocytosis)
  • Intermittent mild metabolic acidosis
  • Mildly low cerebrospinal fluid folate level
  • Increased acidity of the blood (mild metabolic acidosis)
Current Treatments
  • Clobazam
  • Corpus callosotomy
  • Epidiolex
  • Leucovorin
  • Levetiracetam
  • Melatonin as needed
  • Rufinamide


Emergency seizure medications:

  • Diastat
  • Klonopin
Prior Treatments
  • ACTH
  • CBD oil
  • Ketogenic diet
  • Prednisolone
  • Vigabatrin
  • Vitamin B6 (pyridoxine)
Considered treatments
Previously Considered Diagnoses
  • Epilepsy syndromes
  • Encephalopathy/developmental delay syndromes
  • Microdeletion/duplication disorders
  • Mitochondrial disorders
  • Metabolic disorders
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. The DPH7 variant is de novo, and the ALDH1L2 variant is maternally inherited.

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change

If this participant sounds like you or someone you know, please contact us!


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.