TY  - GEN
AU  - Patino,Gustavo A
AU  - Claes,Lieve R F
AU  - Lopez-Santiago,Luis F
AU  - Slat,Emily A
AU  - Dondeti,Raja S R
AU  - Chen,Chunling
AU  - O'Malley,Heather A
AU  - Gray,Charles B B
AU  - Miyazaki,Haruko
AU  - Nukina,Nobuyuki
AU  - Oyama,Fumitaka
AU  - De Jonghe,Peter
AU  - Isom,Lori L
TI  - A functional null mutation of SCN1B in a patient with Dravet syndrome
SN  - 1529-2401
PY  - 2009///0910
KW  - Animals
KW  - Arginine
KW  - genetics
KW  - Biophysics
KW  - Cell Line, Transformed
KW  - Cysteine
KW  - DNA Mutational Analysis
KW  - Disease Models, Animal
KW  - Electric Stimulation
KW  - Epilepsies, Myoclonic
KW  - Female
KW  - Green Fluorescent Proteins
KW  - Hippocampus
KW  - pathology
KW  - Humans
KW  - In Vitro Techniques
KW  - Infant
KW  - Male
KW  - Mice
KW  - Mice, Inbred C57BL
KW  - Mice, Knockout
KW  - Models, Molecular
KW  - NAV1.1 Voltage-Gated Sodium Channel
KW  - Nerve Tissue Proteins
KW  - deficiency
KW  - Oocytes
KW  - Polymorphism, Single Nucleotide
KW  - Sodium Channels
KW  - Temperature
KW  - Transfection
KW  - Twins
KW  - Voltage-Gated Sodium Channel beta-1 Subunit
KW  - Xenopus laevis
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1523/JNEUROSCI.2475-09.2009
ER  -