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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 7 of 7

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GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G).
Todd E, Gurba KN, Botzolakis EJ, Stanic AK, Macdonald RL
(2014) Neurobiol Dis 69: 215-24
MeSH Terms: Cell Membrane, Conserved Sequence, Cycloheximide, Endoplasmic Reticulum, Endoplasmic Reticulum-Associated Degradation, Glycosylation, HEK293 Cells, Humans, Models, Molecular, Mutation, Missense, Patch-Clamp Techniques, Protein Structure, Secondary, Protein Structure, Tertiary, Protein Synthesis Inhibitors, Protein Transport, Receptors, GABA-A, Seizures, Febrile, gamma-Aminobutyric Acid
Added January 24, 2015
0 Communities
1 Members
0 Resources
18 MeSH Terms
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI
(2014) Neurobiol Dis 64: 131-141
MeSH Terms: Adult, Animals, COS Cells, Cells, Cultured, Cerebral Cortex, Child, Child, Preschool, Chlorocebus aethiops, Cohort Studies, Epilepsy, Generalized, Family, Female, HEK293 Cells, Humans, Infant, Male, Neurons, PC12 Cells, Phenotype, Point Mutation, Rats, Receptors, GABA-A, Seizures, Febrile
Added January 24, 2015
0 Communities
1 Members
0 Resources
23 MeSH Terms
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
Hawkins NA, Martin MS, Frankel WN, Kearney JA, Escayg A
(2011) Neurobiol Dis 41: 655-60
MeSH Terms: Alleles, Animals, Epilepsy, Generalized, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, KCNQ2 Potassium Channel, Male, Mice, Mice, 129 Strain, Mice, Inbred C57BL, Mice, Transgenic, Mutation, NAV1.1 Voltage-Gated Sodium Channel, NAV1.2 Voltage-Gated Sodium Channel, NAV1.6 Voltage-Gated Sodium Channel, Nerve Tissue Proteins, Neurons, Phenotype, Seizures, Febrile, Sodium Channels
Added May 27, 2014
0 Communities
1 Members
0 Resources
22 MeSH Terms
Complex febrile seizures followed by complete recovery in an infant with high-titer 2009 pandemic influenza A (H1N1) virus infection.
O'Leary MF, Chappell JD, Stratton CW, Cronin RM, Taylor MB, Tang YW
(2010) J Clin Microbiol 48: 3803-5
MeSH Terms: Humans, Infant, Influenza A Virus, H1N1 Subtype, Influenza, Human, Male, Nasopharynx, Oseltamivir, Seizures, Febrile, Viral Load
Added August 25, 2015
0 Communities
1 Members
0 Resources
9 MeSH Terms
Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.
Ma S, Abou-Khalil B, Blair MA, Sutcliffe JS, Haines JL, Hedera P
(2006) Neurosci Lett 394: 74-8
MeSH Terms: Adult, Case-Control Studies, DNA Mutational Analysis, Epilepsies, Partial, Female, Gene Frequency, Humans, Male, Mutation, Polymorphism, Genetic, Protein Subunits, Receptors, GABA-A, Seizures, Febrile
Added February 20, 2014
0 Communities
1 Members
0 Resources
13 MeSH Terms
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.
Ma S, Abou-Khalil B, Sutcliffe JS, Haines JL, Hedera P
(2005) BMC Med Genet 6: 13
MeSH Terms: Adult, DNA Mutational Analysis, Epilepsy, Temporal Lobe, Female, Genetic Predisposition to Disease, Humans, Male, Polymorphism, Single Nucleotide, Receptors, GABA-B, Seizures, Febrile, Syndrome
Added February 20, 2014
0 Communities
1 Members
0 Resources
11 MeSH Terms
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL
(2001) Neurology 57: 2265-72
MeSH Terms: Adolescent, Adult, Age of Onset, Aged, Amino Acid Sequence, Brain, Child, Child, Preschool, Chromosomes, Human, Pair 2, Electroencephalography, Epilepsies, Partial, Epilepsy, Generalized, Female, Genetic Linkage, Humans, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Seizures, Febrile
Added February 20, 2014
0 Communities
1 Members
0 Resources
24 MeSH Terms