valine and Epilepsies, Myoclonic

valine has been researched along with Epilepsies, Myoclonic in 2 studies

Research

Studies (2)

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	2 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Hoshi, A; Ogiwara, I; Sugiura, Y; Ugawa, Y; Yamakawa, K	1
Itoh, S; Matsuoka, H; Miyake, N; Sugihara, S; Suzuki, K; Yasuda, Y; Yorifuji, T	1

Other Studies

2 other study(ies) available for valine and Epilepsies, Myoclonic

Article	Year
Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects. Epilepsia, 2012, Volume: 53, Issue:6 Topics: Arginine; Aspartic Acid; Biophysics; Cell Line, Transformed; Electric Stimulation; Epilepsies, Myoclonic; Humans; Membrane Potentials; Mutation, Missense; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Patch-Clamp Techniques; Seizures, Febrile; Sodium Channels; Transfection; Valine	2012
DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas. Journal of pediatric endocrinology & metabolism : JPEM, 2013, Volume: 26, Issue:1-2 Topics: Alanine; Amino Acid Substitution; Diabetes Mellitus; Epilepsies, Myoclonic; Female; Humans; Hypoglycemic Agents; Infant; Mutation, Missense; Potassium Channels, Inwardly Rectifying; Sulfonylurea Compounds; Syndrome; Treatment Failure; Valine	2013

Article

Year

Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects.

Epilepsia, 2012, Volume: 53, Issue:6

Topics: Arginine; Aspartic Acid; Biophysics; Cell Line, Transformed; Electric Stimulation; Epilepsies, Myoclonic; Humans; Membrane Potentials; Mutation, Missense; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Patch-Clamp Techniques; Seizures, Febrile; Sodium Channels; Transfection; Valine

2012

DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas.

Journal of pediatric endocrinology & metabolism : JPEM, 2013, Volume: 26, Issue:1-2

Topics: Alanine; Amino Acid Substitution; Diabetes Mellitus; Epilepsies, Myoclonic; Female; Humans; Hypoglycemic Agents; Infant; Mutation, Missense; Potassium Channels, Inwardly Rectifying; Sulfonylurea Compounds; Syndrome; Treatment Failure; Valine

2013