A Different SLC2A1
Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
 Nonstandard abbreviations: FGF, fibroblast growth factor; FGFR, FGF receptor; FHF, fibroblast homologous factor; SLC2A1
, solute carrier family 2 (facilitated glucose transporter), member 1; GLUT1, glucose transporter 1.
ASC [??]PPAR[gamma] ($) phosphate- [??]PPAR[beta]/ dehydrogenase [delta] OLR1 Oxidized low density BAEC [??]PPAR[alpha] lipoprotein receptor 1 [??]PPAR[gamma] PC Pyruvate carboxylase Hepatoma * [??]PPAR[alpha] MDBK [??]PPAR[alpha] SLC2A1
Solute carrier family 2, BAEC [??]PPAR[beta]/ member 1 [delta] TERF2 Telomeric repeat binding BAEC [??]PPAR[gamma] factor 2 PPAR activation-related functions PPARA Peroxisome-proliferator- BAEC [??]PPAR[alpha] activated receptor alpha MDBK [??]PPAR[alpha] Liver [??]PPAR[gamma] Muscle ** [??]PPAR[gamma] PPARG Peroxisome-proliferator- bEPC [??]PPAR[gamma] activated receptor gamma MAC-T [??]PPAR[gamma] PPARGC1A PPAR[gamma], coactivator s.
These genes had transcripts with expression levels higher than those of the solute carrier family gene 2, member 1 (SLC2A1
) and the keratin 6B gene in each DNA microarray analysis (both appeared in both DNA microarrays and showed identical expression levels), and included the genes for amino acid transporters, and structural, ion-related, translation-, transcription-, and cell cycle-associated proteins.
All the patients were excluded PRRT2 mutations and the authors conducted genetic testing for MR-1 and SLC2A1 genes mutations in the patients, which are the causative genes of paroxysmal nonkinesigenic dyskinesia (PNKD) and paroxysmal exertion-induced dyskinesia (PED), respectively.
Mutation Analysis of MR-1 , SLC2A1 , and CLCN1 in 28 PRRT2 -negative Paroxysmal Kinesigenic Dyskinesia Patients.
Clinical features were evaluated, and all subjects were screened for MR-1, SLC2A1
, and CLCN1 genes, which are the causative genes of paroxysmal nonkinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia, and myotonia congenita (MC), respectively.