Compounds > arginine

arginine and Benign Infantile Myoclonic Epilepsy

arginine has been researched along with Benign Infantile Myoclonic Epilepsy in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (40.00)29.6817
2010's3 (60.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Chen, C; Claes, LR; De Jonghe, P; Dondeti, RS; Gray, CB; Isom, LL; Lopez-Santiago, LF; Miyazaki, H; Nukina, N; O'Malley, HA; Oyama, F; Patino, GA; Slat, EA1
Berdeli, A; Gökben, S; Serdaroğlu, G1
Gökben, S; Klepper, J; Serdaroğlu, G; Tekgül, H; Yılmaz, S1
Hoshi, A; Ogiwara, I; Sugiura, Y; Ugawa, Y; Yamakawa, K1
Hirose, S; Lossin, C; Rogawski, MA; Shi, X1

Other Studies

5 other study(ies) available for arginine and Benign Infantile Myoclonic Epilepsy

ArticleYear
A functional null mutation of SCN1B in a patient with Dravet syndrome.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009, Aug-26, Volume: 29, Issue:34

    Topics: Animals; Arginine; Biophysics; Cell Line, Transformed; Cysteine; Disease Models, Animal; DNA Mutational Analysis; Electric Stimulation; Epilepsies, Myoclonic; Female; Green Fluorescent Proteins; Hippocampus; Humans; In Vitro Techniques; Infant; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Models, Molecular; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Oocytes; Polymorphism, Single Nucleotide; Sodium Channels; Temperature; Transfection; Twins; Voltage-Gated Sodium Channel beta-1 Subunit; Xenopus laevis

2009
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy.
    Neuropediatrics, 2009, Volume: 40, Issue:2

    Topics: Arginine; Carrier Proteins; Child; Codon, Nonsense; DNA Mutational Analysis; Electroencephalography; Epilepsies, Myoclonic; Family Health; Female; Humans; RNA Splicing Factors; Turkey

2009
Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.
    Epilepsy & behavior : E&B, 2011, Volume: 21, Issue:2

    Topics: Arginine; Child; Cysteine; Epilepsies, Myoclonic; Female; Glucose Transporter Type 1; Humans; Mutation

2011
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
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
    Neurobiology of disease, 2012, Volume: 47, Issue:3

    Topics: Arginine; Biophysical Phenomena; Electric Stimulation; Epilepsies, Myoclonic; HEK293 Cells; Humans; Ion Channel Gating; Membrane Potentials; Mutagenesis, Site-Directed; Mutation; NAV1.2 Voltage-Gated Sodium Channel; Patch-Clamp Techniques; Threonine; Time Factors; Transfection

2012