Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.
Sonali Sen, Karen Keough, James Gibson
https://pubmed.ncbi.nlm.nih.gov/25870456Actively Recruiting
Led by Children's Hospital of Fudan University · Updated on 2025-09-05
1400
Participants Needed
1
Research Sites
N/A
Total Duration
C
Children's Hospital of Fudan University
Lead Sponsor
X
Xiamen Children's Hospital, Fujian of China
Collaborating Sponsor
This research aims to describe how often new seizures start or are newly diagnosed in newborn babies up to 28 days old. It focuses on babies with uncontrolled seizures, which can be linked to high-risk factors during the time around birth. Researchers study abnormal electrical activity in the brain to understand these seizures better. To do this, the study uses electroencephalography (EEG) to monitor and record brain electrical activity in newborns suspected of having seizures. Along with EEG recordings, information about the babies' demographics, medical history, family background, birth details, growth, and feeding is collected through medical records and questionnaires. This helps identify factors that may influence seizure occurrence in newborns. Participants will be followed from birth until 28 days old to record seizure incidence and monitor brain activity using EEG within 14 days after any seizure. At 18 months corrected age, neurodevelopment and neurological function are assessed using specific scoring systems. Genetic testing is also done within 30 days of DNA sample collection. The study collects detailed information to better understand seizure risks and outcomes in newborns.
CONDITIONS
Epidemiology Study on Neonatal Seizure
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Complete this quick 3-step screening to check your eligibility
Duration - Up to 28 days from birth
Participants are screened for eligibility to participate in the trial.
/null
Duration - Within 14 days after seizure attack
Participants undergo EEG to determine and monitor uncontrolled or suspected seizures, along with collection of medical records and questionnaires about demographic, family, perinatal, birth, growth, and feeding conditions.
1 to 2 visits depending on seizure occurrence
Duration - Up to 18 months after birth
Participants are followed to observe neurodevelopment and neurological status at corrected age of 18 months, including Bayley Scores and GMFM-88 assessments, as well as gene mutation analysis from DNA samples.
1 visit at corrected age of 18 months and 1 visit about 30 days after DNA sample collection
Total: 1 location
1
Children Hospital of Fudan University
Shanghai, Shanghai Municipality, China, 201102
Actively Recruiting
W
Wenhao Zhou, Doctor
G
Guoqiang Cheng, Doctor
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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