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Sandrine Pereira Selected Research

familial Infantile convulsions and paroxysmal choreoathetosis

2/2002New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.

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Sandrine Pereira Research Topics

Disease

3Neoplasms (Cancer)
05/2021 - 11/2008
2Progeria (Hutchinson Gilford Syndrome)
07/2008 - 07/2008
2Premature Aging
07/2008 - 07/2008
2Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions)
04/2004 - 02/2002
1Ataxia Telangiectasia (Louis Bar Syndrome)
05/2022
1Squamous Cell Carcinoma of Head and Neck
05/2022
1Complementation Group D Xeroderma Pigmentosum
01/2020
1Chromosome Breakage
01/2020
1Huntington Disease (Huntington's Disease)
06/2014
1Brain Neoplasms (Brain Tumor)
11/2008
1Lipodystrophy
07/2008
1Alopecia (Baldness)
07/2008
1Temporal Lobe Epilepsy
03/2006
1Seizures (Absence Seizure)
04/2004
1familial Infantile convulsions and paroxysmal choreoathetosis
02/2002

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
05/2022 - 07/2008
2DNA (Deoxyribonucleic Acid)IBA
01/2020 - 06/2014
2Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
06/2014 - 07/2008
1Biomarkers (Surrogate Marker)IBA
05/2022
1ChromatinIBA
01/2020
11,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA
01/2020
1Huntingtin ProteinIBA
06/2014
1Diphosphonates (Bisphosphonates)IBA
06/2014
1Lamin Type A (Lamin A)IBA
11/2008
1prelamin AIBA
07/2008
1LaminsIBA
07/2008
1Metalloproteases (Metalloproteinases)IBA
07/2008
1Complement System Proteins (Complement)IBA
03/2006
1KCNQ2 Potassium ChannelIBA
04/2004
1Sodium-Glucose Transport ProteinsIBA
02/2002

Therapy/Procedure

3Radiotherapy
05/2022 - 03/2016
1Drug Therapy (Chemotherapy)
05/2021