Infants who met the inclusion criteria were enrolled in this study. The infants will get their own DNA sequencing results by WES technology. The researchers found that some of them carried mutations in the KCNQ2 gene. so they wanted to compare whether there were differences with or without KCNQ2 gene mutations in the efficacy of anticonvulsants or long-term neurodevelopment in different exposure groups.

The researchers retained the neonates' or infants' 2ml serum as a biological sample for the Whole Exon Sequencing.

Seizures

Seizure Disorder

Seizure Newborn

Seizures, Generalized

Epileptic Encephalopathy

Epileptic Encephalopathy, Neonatal-onset

Epileptic Encephalopathy, Infant-onset

KCNQ2

The researchers extracted DNA from the baby's serum and sent it to WES to get the baby's total exon sequence.

Children Hospital of Fudan University

A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy

The investigators used WES to screen for neonatal onset seizure and calculated the incidence of KCNQ2 gene mutations in these neonates.

Some neonates with seizure associated with KCNQ2 gene mutation will develop epileptic encephalopathy or syndrome at a later stage.
The researchers calculated the probability of recurrent seizures or progression in neonates with seizure associated with KCNQ2 gene mutations within the age of one year.

Some non-benign KCNQ2 gene-related convulsions require anticonvulsant intervention, and investigators hope to observe and obtain the effective rate of first-line anticonvulsant intervention. To determine whether the convulsion stopped or the frequency of convulsion decreased within 72 hours after taking the drug. If convulsions stop or the frequency of seizures decreases, drug intervention is considered effective.

The investigators plan to use the bayley Neurodevelopmental scale to assess the neurodevelopmental status of infants with KCNQ2 gene-associated epileptic encephalopathy within 2 years of age.

Children's Hospital of Fudan University

This is a registry. No above standard of care interventions will take place. Participants must have an acute thromboembolus within an intracranial artery in the anterior circulation (internal carotid, anterior cerebral, middle cerebral), which undergoes mechanical thrombectomy per standard of care.

1 cc of arterial distal blood, thrombus, and 5 cc of peripheral arterial blood

Acute Ischemic Stroke

Collect standard of care clot and arterial blood during standard of care thrombectomy from Acute Ischemic Stroke Patients for lab analysis.

Registry

University of Kentucky Deparment of Neurosurgery, UK Chandler Hospital

Blood And Clot Thrombectomy Registry And Collaboration

Blood And Clot Thrombectomy Registry And Collaboration (BACTRAC)

A small amount of blood (from the two specimens) will be sent for blood gas analysis to evaluate the pH, pO2, pCO2, pHCO3 potassium, sodium, and calcium concentrations.

Justin Fraser

Asst Professor of Cerebrovascular, Endovascular, & Skull Base Surgery; Director, Cerebrovascular Surgery; Depts of Neurological Surgery, Neurology, Radiology, and Anatomy & Neurobiology; Center for Advanced Translational Stroke Science; Univ of KY

intracranial hemorrhages/kalium

A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy

Blood And Clot Thrombectomy Registry And Collaboration

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