serine has been researched along with Drug Refractory Epilepsy in 3 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Excerpt | Relevance | Reference |
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"We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity." | 3.83 | Two new cases of serine deficiency disorders treated with l-serine. ( Bahi-Buisson, N; Boddaert, N; Brassier, A; de Lonlay, P; Desguerre, I; Habarou, F; Hubert, L; Kaminska, A; Ottolenghi, C; Valayannopoulos, V; Van Schaftingen, E; Wiame, E, 2016) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (33.33) | 24.3611 |
2020's | 2 (66.67) | 2.80 |
Authors | Studies |
---|---|
Sarigecili, E | 1 |
Bulut, FD | 1 |
Anlas, O | 1 |
Zhang, X | 1 |
Hu, B | 1 |
Lu, L | 1 |
Xu, D | 1 |
Sun, L | 1 |
Lin, W | 1 |
Brassier, A | 1 |
Valayannopoulos, V | 1 |
Bahi-Buisson, N | 1 |
Wiame, E | 1 |
Hubert, L | 1 |
Boddaert, N | 1 |
Kaminska, A | 1 |
Habarou, F | 1 |
Desguerre, I | 1 |
Van Schaftingen, E | 1 |
Ottolenghi, C | 1 |
de Lonlay, P | 1 |
3 other studies available for serine and Drug Refractory Epilepsy
Article | Year |
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A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.
Topics: Amino Acid Transport System ASC; Corpus Callosum; Drug Resistant Epilepsy; Humans; Microcephaly; Mut | 2022 |
D-serine and NMDA Receptor 1 Expression in Patients with Intractable Epilepsy.
Topics: Adult; Drug Resistant Epilepsy; Female; Gene Expression; Humans; Male; Middle Aged; Receptors, N-Met | 2021 |
Two new cases of serine deficiency disorders treated with l-serine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Ch | 2016 |