At 7 months old, the participant had his first seizure. He started taking phenobarbital and did not have additional seizures until age 5. While weaning off of phenobarbital at age 5-6, the participant began experiencing lower extremity pain and uncontrollable movements. He restarted phenobarbital; however, his symptoms continued to progress. … read more
The participant had normal development until about 6 years. Around that time, her development plateaued. At age 9 she began having seizures, which have worsened over time. The participant has some brain abnormalities (cortical dysplasia and an EEG with generalized slow activity); however, clinicians do not believe these findings explain … read more
The participant’s parents first noticed delays in his motor development around 2 years old. He began walking at 15 months but was unsteady on his feet. He had an abnormal gait while walking and muscle weakness mostly in his upper arms and legs (proximal muscle weakness). He also had low … read more
