Anik St-Denis Selected Research

COOH-terminal signal transamidase

1/2020	Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
10/2018	Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
11/2017	Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

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Anik St-Denis Research Topics

Disease

3	Epilepsy (Aura) 01/2020 - 01/2017
3	Muscle Hypotonia (Hypotonia) 01/2020 - 01/2017
2	Atrophy 01/2020 - 11/2017
2	Seizures (Absence Seizure) 10/2018 - 01/2017
2	Ataxia (Dyssynergia) 10/2018 - 03/2005
1	Infantile Epileptic-Dyskinetic Encephalopathy 11/2020
1	Brain Diseases (Brain Disorder) 10/2018
1	Metabolic Bone Diseases (Osteopenia) 11/2017
1	Intellectual Disability (Idiocy) 01/2017
1	Infections 01/2013
1	Coinfection 01/2013
1	Pneumonia (Pneumonitis) 01/2013
1	Salmonella Infections (Salmonellosis) 01/2013
1	Apraxias (Dyspraxia) 03/2005
1	Dysarthria (Spastic Dysarthria) 03/2005
1	autosomal recessive 1 Spinocerebellar ataxia 03/2005

Drug/Important Bio-Agent (IBA)

3	COOH-terminal signal transamidaseIBA 01/2020 - 11/2017
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 11/2020 - 01/2017
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 10/2018
1	Proteins (Proteins, Gene)FDA Link 11/2017
1	Pharmaceutical PreparationsIBA 01/2017
1	Immunoglobulin D (IgD)IBA 01/2017
1	AutoantibodiesIBA 01/2013
1	Interferon-gamma (Interferon, gamma)IBA 01/2013
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 03/2005