EFHC1 - EF-hand domain containing 1 Gene

Also Known as EJM1; POC9; RIB72; dJ304B14.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 114327

About EFHC1

Cytogenetic location: 6p12.2 Genomic coordinates (GRCh38): 6:52,420,342-52,497,198 (from NCBI)

This gene has 39 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 8.2), thyroid (RPKM 5.9) and 24 other tissues.

Summary

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

EFHC1 Products (2)

mRNA Protein Name
NM_001172420.2 NP_001165891.1 EF-hand domain-containing protein 1 isoform 2
NM_018100.4 NP_060570.2 EF-hand domain-containing protein 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables alpha-tubulin binding IDA
IDA: Inferred from direct assay
19734894 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in cerebral cortex cell migration IMP
IMP: Inferred from mutant phenotype
22926142 GOA
involved in mitotic cytokinesis IMP
IMP: Inferred from mutant phenotype
28370826 GOA
involved in mitotic spindle organization IMP
IMP: Inferred from mutant phenotype
19734894 GOA
involved in regulation of cell division IMP
IMP: Inferred from mutant phenotype
19734894 GOA
Cellular Component GO Annotation Evidence References Source
located in axonemal microtubule IDA
IDA: Inferred from direct assay
36191189 GOA
located in centrosome IDA
IDA: Inferred from direct assay
22926142 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
19734894 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
28370826 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EFHC1 Protein Structure

DUF1126

DUF1126: DUF1126 PH-like domain (122 - 153)

DUF1126

DUF1126: DUF1126 PH-like domain (263 - 296)

DUF1126

DUF1126: DUF1126 PH-like domain (439 - 471)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 640 a.a.
Protein Preferred Names Protein Names

EF-hand domain-containing protein 1

  • EF-hand domain (C-terminal) containing 1

EFHC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EFHC1 Q5JVL4 TEKT1 Homo sapiens Q969V4 32296183
Intra
EFHC1 Q5JVL4 TEKT1 Homo sapiens Q969V4 32296183
Intra
EFHC1 Q5JVL4 TEKT1 Homo sapiens Q969V4 32296183
Intra
EFHC1 Q5JVL4 RIMBP3 Homo sapiens Q9UFD9 25910212
Intra
EFHC1 Q5JVL4 RIMBP3 Homo sapiens Q9UFD9 25910212
Intra
EFHC1 Q5JVL4 RIMBP3 Homo sapiens Q9UFD9 25910212
Intra
EFHC1 Q5JVL4 SELENOV Homo sapiens P59797 32296183
Intra
EFHC1 Q5JVL4 SELENOV Homo sapiens P59797 32296183
Intra
EFHC1 Q5JVL4 SLAIN1 Homo sapiens Q8ND83 32296183
Intra
EFHC1 Q5JVL4 SLAIN1 Homo sapiens Q8ND83 32296183
Intra
EFHC1 Q5JVL4 SLAIN1 Homo sapiens Q8ND83 32296183
Intra
EFHC1 Q5JVL4 NRIP3 Homo sapiens Q9NQ35 32296183
Intra
EFHC1 Q5JVL4 NRIP3 Homo sapiens Q9NQ35 32296183
Intra
EFHC1 Q5JVL4 NRIP3 Homo sapiens Q9NQ35 32296183
Intra
EFHC1 Q5JVL4 SNAI1 Homo sapiens O95863 32296183
Intra
EFHC1 Q5JVL4 SNAI1 Homo sapiens O95863 32296183
Intra
EFHC1 Q5JVL4 REL Homo sapiens Q04864-2 25910212
Intra
EFHC1 Q5JVL4 REL Homo sapiens Q04864-2 25910212
Intra
EFHC1 Q5JVL4 REL Homo sapiens Q04864-2 32296183
Intra
EFHC1 Q5JVL4 REL Homo sapiens Q04864-2 32296183
Intra
EFHC1 Q5JVL4 REL Homo sapiens Q04864-2 25910212
Intra
EFHC1 Q5JVL4 TEX11 Homo sapiens Q8IYF3-3 32296183
Intra
EFHC1 Q5JVL4 TEX11 Homo sapiens Q8IYF3-3 32296183
Intra
EFHC1 Q5JVL4 TEX11 Homo sapiens Q8IYF3-3 25910212
Intra
EFHC1 Q5JVL4 TEX11 Homo sapiens Q8IYF3-3 25910212
Intra
EFHC1 Q5JVL4 TEX11 Homo sapiens Q8IYF3-3 25910212
Intra
EFHC1 Q5JVL4 TEX11 Homo sapiens Q8IYF3-3 32296183
Intra
EFHC1 Q5JVL4 TLE5 Homo sapiens Q08117-2 32296183
Intra
EFHC1 Q5JVL4 TLE5 Homo sapiens Q08117-2 32296183
Intra
EFHC1 Q5JVL4 CFAP161 Homo sapiens Q6P656 32296183
Intra
EFHC1 Q5JVL4 CFAP161 Homo sapiens Q6P656 32296183
Intra
EFHC1 Q5JVL4 CFAP161 Homo sapiens Q6P656 32296183
Intra
EFHC1 Q5JVL4 TP53BP2 Homo sapiens Q05BL1 32296183
Intra
EFHC1 Q5JVL4 TP53BP2 Homo sapiens Q05BL1 32296183
Intra
EFHC1 Q5JVL4 LMO2 Homo sapiens P25791-3 32296183
Intra
EFHC1 Q5JVL4 LMO2 Homo sapiens P25791-3 32296183
Intra
EFHC1 Q5JVL4 FMR1 Homo sapiens Q8IXW7 32296183
Intra
EFHC1 Q5JVL4 FMR1 Homo sapiens Q8IXW7 32296183
Intra
EFHC1 Q5JVL4 FMR1 Homo sapiens Q8IXW7 32296183
Intra
EFHC1 Q5JVL4 CIMIP1 Homo sapiens Q9H1P6 32296183
Intra
EFHC1 Q5JVL4 CIMIP1 Homo sapiens Q9H1P6 32296183
Intra
EFHC1 Q5JVL4 CIMIP1 Homo sapiens Q9H1P6 32296183
Intra
EFHC1 Q5JVL4 MBD3L1 Homo sapiens Q8WWY6 32296183
Intra
EFHC1 Q5JVL4 MBD3L1 Homo sapiens Q8WWY6 32296183
Intra
EFHC1 Q5JVL4 MBD3L1 Homo sapiens Q8WWY6 32296183
Intra
EFHC1 Q5JVL4 KCNJ5-AS1 Homo sapiens Q8TAV5 32296183
Intra
EFHC1 Q5JVL4 KCNJ5-AS1 Homo sapiens Q8TAV5 32296183
Intra
EFHC1 Q5JVL4 KCNJ5-AS1 Homo sapiens Q8TAV5 32296183
Intra
EFHC1 Q5JVL4 SAPCD1 Homo sapiens Q5SSQ6-2 32296183
Intra
EFHC1 Q5JVL4 SAPCD1 Homo sapiens Q5SSQ6-2 32296183
Intra
EFHC1 Q5JVL4 SAPCD1 Homo sapiens Q5SSQ6-2 32296183
Intra
EFHC1 Q5JVL4 TCF4 Homo sapiens P15884-3 25910212
Intra
EFHC1 Q5JVL4 TCF4 Homo sapiens P15884-3 32296183
Intra
EFHC1 Q5JVL4 TCF4 Homo sapiens P15884-3 25910212
Intra
EFHC1 Q5JVL4 TCF4 Homo sapiens P15884-3 32296183
Intra
EFHC1 Q5JVL4 TCF4 Homo sapiens P15884-3 25910212
Intra
EFHC1 Q5JVL4 WASF1 Homo sapiens Q92558 32296183
Intra
EFHC1 Q5JVL4 WASF1 Homo sapiens Q92558 32296183
Intra
EFHC1 Q5JVL4 WASF1 Homo sapiens Q92558 32296183
Intra
EFHC1 Q5JVL4 PRR5L Homo sapiens Q6MZQ0 32296183
Intra
EFHC1 Q5JVL4 PRR5L Homo sapiens Q6MZQ0 32296183
Intra
EFHC1 Q5JVL4 PRR5L Homo sapiens Q6MZQ0 32296183
Intra
EFHC1 Q5JVL4 EFHC2 Homo sapiens Q5JST6 25910212
Intra
EFHC1 Q5JVL4 EFHC2 Homo sapiens Q5JST6 32296183
Intra
EFHC1 Q5JVL4 EFHC2 Homo sapiens Q5JST6 25910212
Intra
EFHC1 Q5JVL4 EFHC2 Homo sapiens Q5JST6 25910212
Intra
EFHC1 Q5JVL4 EFHC2 Homo sapiens Q5JST6 32296183
Intra
EFHC1 Q5JVL4 LRRC61 Homo sapiens Q9BV99 32296183
Intra
EFHC1 Q5JVL4 LRRC61 Homo sapiens Q9BV99 32296183
Intra
EFHC1 Q5JVL4 LRRC61 Homo sapiens Q9BV99 32296183
Intra
EFHC1 Q5JVL4 UBAP2 Homo sapiens Q5T6F2 32296183
Intra
EFHC1 Q5JVL4 UBAP2 Homo sapiens Q5T6F2 32296183
Intra
EFHC1 Q5JVL4 UBAP2 Homo sapiens Q5T6F2 32296183
Intra
EFHC1 Q5JVL4 SYNGAP1 Homo sapiens Q96PV0 32296183
Intra
EFHC1 Q5JVL4 SYNGAP1 Homo sapiens Q96PV0 32296183
Intra
EFHC1 Q5JVL4 SYNGAP1 Homo sapiens Q96PV0 32296183
Intra
EFHC1 Q5JVL4 MIIP Homo sapiens Q5JXC2 32296183
Intra
EFHC1 Q5JVL4 MIIP Homo sapiens Q5JXC2 32296183
Intra
EFHC1 Q5JVL4 MIIP Homo sapiens Q5JXC2 32296183
Intra
EFHC1 Q5JVL4 MTFR1L Homo sapiens Q9H019 32296183
Intra
EFHC1 Q5JVL4 MTFR1L Homo sapiens Q9H019 32296183
Intra
EFHC1 Q5JVL4 MTFR1L Homo sapiens Q9H019 32296183
Intra
EFHC1 Q5JVL4 MRNIP Homo sapiens Q6NTE8 32296183
Intra
EFHC1 Q5JVL4 MRNIP Homo sapiens Q6NTE8 32296183
Intra
EFHC1 Q5JVL4 MRNIP Homo sapiens Q6NTE8 32296183
Intra
EFHC1 Q5JVL4 KRT75 Homo sapiens O95678 32296183
Intra
EFHC1 Q5JVL4 KRT75 Homo sapiens O95678 32296183
Intra
EFHC1 Q5JVL4 KRT18 Homo sapiens P05783 32296183
Intra
EFHC1 Q5JVL4 KRT18 Homo sapiens P05783 32296183
Intra
EFHC1 Q5JVL4 EIF4ENIF1 Homo sapiens Q9NRA8 25910212
Intra
EFHC1 Q5JVL4 EIF4ENIF1 Homo sapiens Q9NRA8 25416956
Intra
EFHC1 Q5JVL4 EIF4ENIF1 Homo sapiens Q9NRA8 25910212
Intra
EFHC1 Q5JVL4 EIF4ENIF1 Homo sapiens Q9NRA8 25910212
Intra
EFHC1 Q5JVL4 EIF4ENIF1 Homo sapiens Q9NRA8 25416956
Intra
EFHC1 Q5JVL4 PBX1 Homo sapiens P40424 32296183
Intra
EFHC1 Q5JVL4 PBX1 Homo sapiens P40424 32296183
Intra
EFHC1 Q5JVL4 REL Homo sapiens Q04864 25416956
Intra
EFHC1 Q5JVL4 REL Homo sapiens Q04864 25416956
Intra
EFHC1 Q5JVL4 WHRN Homo sapiens Q9P202 32296183
Intra
EFHC1 Q5JVL4 PBX2 Homo sapiens P40425 32296183
Intra
EFHC1 Q5JVL4 PBX2 Homo sapiens P40425 32296183
Intra
EFHC1 Q5JVL4 BRAP Homo sapiens Q7Z569 33961781
Intra
EFHC1 Q5JVL4 BRAP Homo sapiens Q7Z569 28514442
Intra
EFHC1 Q5JVL4 TRAF2 Homo sapiens Q12933 25910212
Intra
EFHC1 Q5JVL4 TRAF2 Homo sapiens Q12933 32296183
Intra
EFHC1 Q5JVL4 TRAF2 Homo sapiens Q12933 25910212
Intra
EFHC1 Q5JVL4 TRAF2 Homo sapiens Q12933 25910212
Intra
EFHC1 Q5JVL4 TRAF2 Homo sapiens Q12933 32296183
Intra
EFHC1 Q5JVL4 VBP1 Homo sapiens P61758 32296183
Intra
EFHC1 Q5JVL4 VBP1 Homo sapiens P61758 32296183
Intra
EFHC1 Q5JVL4 NQO2 Homo sapiens P16083 32296183
Intra
EFHC1 Q5JVL4 NQO2 Homo sapiens P16083 32296183
Intra
EFHC1 Q5JVL4 GADD45B Homo sapiens O75293 32296183
Intra
EFHC1 Q5JVL4 GADD45B Homo sapiens O75293 32296183
Intra
EFHC1 Q5JVL4 TCF4 Homo sapiens P15884 25416956
Intra
EFHC1 Q5JVL4 TCF4 Homo sapiens P15884 25416956
Intra
EFHC1 Q5JVL4 OIP5 Homo sapiens O43482 32296183
Intra
EFHC1 Q5JVL4 OIP5 Homo sapiens O43482 32296183
Intra
EFHC1 Q5JVL4 GOLGA2 Homo sapiens Q08379 25910212
Intra
EFHC1 Q5JVL4 GOLGA2 Homo sapiens Q08379 25910212
Intra
EFHC1 Q5JVL4 GOLGA2 Homo sapiens Q08379 25910212
Intra
EFHC1 Q5JVL4 ITGB3BP Homo sapiens Q13352 32296183
Intra
EFHC1 Q5JVL4 ITGB3BP Homo sapiens Q13352 32296183
Intra
EFHC1 Q5JVL4 PMF1 Homo sapiens Q6P1K2 32296183
Intra
EFHC1 Q5JVL4 PMF1 Homo sapiens Q6P1K2 32296183
Intra
EFHC1 Q5JVL4 PMF1 Homo sapiens Q6P1K2 32296183
Intra
EFHC1 Q5JVL4 YJU2B Homo sapiens P13994 32296183
Intra
EFHC1 Q5JVL4 YJU2B Homo sapiens P13994 32296183
Intra
EFHC1 Q5JVL4 KRT15 Homo sapiens P19012 25910212
Intra
EFHC1 Q5JVL4 KRT15 Homo sapiens P19012 25910212
Intra
EFHC1 Q5JVL4 KRT15 Homo sapiens P19012 25910212
Intra
EFHC1 Q5JVL4 CALCOCO2 Homo sapiens Q13137 32296183
Intra
EFHC1 Q5JVL4 CALCOCO2 Homo sapiens Q13137 32296183
Intra
EFHC1 Q5JVL4 ZBED1 Homo sapiens O96006 25910212
Intra
EFHC1 Q5JVL4 ZBED1 Homo sapiens O96006 25910212
Intra
EFHC1 Q5JVL4 ZBED1 Homo sapiens O96006 32296183
Intra
EFHC1 Q5JVL4 ZBED1 Homo sapiens O96006 25910212
Intra
EFHC1 Q5JVL4 ZBED1 Homo sapiens O96006 32296183
Intra
EFHC1 Q5JVL4 NUP54 Homo sapiens Q7Z3B4 32296183
Intra
EFHC1 Q5JVL4 NUP54 Homo sapiens Q7Z3B4 32296183
Intra
EFHC1 Q5JVL4 NUP54 Homo sapiens Q7Z3B4 32296183
Intra
EFHC1 Q5JVL4 SORBS3 Homo sapiens O60504 32296183
Intra
EFHC1 Q5JVL4 SORBS3 Homo sapiens O60504 32296183
Intra
EFHC1 Q5JVL4 KCTD4 Homo sapiens Q8WVF5 32296183
Intra
EFHC1 Q5JVL4 KCTD4 Homo sapiens Q8WVF5 32296183
Intra
EFHC1 Q5JVL4 KCTD4 Homo sapiens Q8WVF5 25910212
Intra
EFHC1 Q5JVL4 KCTD4 Homo sapiens Q8WVF5 32296183
Intra
EFHC1 Q5JVL4 KCTD4 Homo sapiens Q8WVF5 25910212
Intra
EFHC1 Q5JVL4 KCTD4 Homo sapiens Q8WVF5 25910212
Intra
EFHC1 Q5JVL4 TRIP6 Homo sapiens Q15654 25910212
Intra
EFHC1 Q5JVL4 TRIP6 Homo sapiens Q15654 25910212
Intra
EFHC1 Q5JVL4 TRIP6 Homo sapiens Q15654 25910212
Intra
EFHC1 Q5JVL4 CHCHD3 Homo sapiens Q9NX63 32296183
Intra
EFHC1 Q5JVL4 CHCHD3 Homo sapiens Q9NX63 32296183
Intra
EFHC1 Q5JVL4 CHCHD3 Homo sapiens Q9NX63 32296183
Intra
EFHC1 Q5JVL4 SPATA2 Homo sapiens Q9UM82 32296183
Intra
EFHC1 Q5JVL4 SPATA2 Homo sapiens Q9UM82 32296183
Intra
EFHC1 Q5JVL4 SPATA2 Homo sapiens Q9UM82 32296183
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 25910212
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 31515488
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 25910212
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 25416956
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 25910212
Intra
EFHC1 Q5JVL4 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
EFHC1 Q5JVL4 PAX6 Homo sapiens P26367 32296183
Intra
EFHC1 Q5JVL4 PAX6 Homo sapiens P26367 32296183
Intra
EFHC1 Q5JVL4 IMP3 Homo sapiens Q9NV31 32296183
Intra
EFHC1 Q5JVL4 IMP3 Homo sapiens Q9NV31 32296183
Intra
EFHC1 Q5JVL4 IMP3 Homo sapiens Q9NV31 32296183
Intra
EFHC1 Q5JVL4 HOMER3 Homo sapiens Q9NSC5 25910212
Intra
EFHC1 Q5JVL4 HOMER3 Homo sapiens Q9NSC5 25910212
Intra
EFHC1 Q5JVL4 HOMER3 Homo sapiens Q9NSC5 25910212
Intra
EFHC1 Q5JVL4 SH3GLB2 Homo sapiens Q9NR46 25910212
Intra
EFHC1 Q5JVL4 SH3GLB2 Homo sapiens Q9NR46 25910212
Intra
EFHC1 Q5JVL4 SH3GLB2 Homo sapiens Q9NR46 25910212
Intra
EFHC1 Q5JVL4 GAS2L2 Homo sapiens Q8NHY3 32296183
Intra
EFHC1 Q5JVL4 MAMDC2 Homo sapiens Q7Z304 32296183
Intra
EFHC1 Q5JVL4 MAMDC2 Homo sapiens Q7Z304 32296183
Intra
EFHC1 Q5JVL4 MAMDC2 Homo sapiens Q7Z304 32296183
Intra
EFHC1 Q5JVL4 METTL27 Homo sapiens Q8N6F8 32296183
Intra
EFHC1 Q5JVL4 METTL27 Homo sapiens Q8N6F8 32296183
Intra
EFHC1 Q5JVL4 METTL27 Homo sapiens Q8N6F8 32296183
Intra
EFHC1 Q5JVL4 IHO1 Homo sapiens Q8IYA8 25910212
Intra
EFHC1 Q5JVL4 IHO1 Homo sapiens Q8IYA8 25910212
Intra
EFHC1 Q5JVL4 IHO1 Homo sapiens Q8IYA8 25910212
Intra
EFHC1 Q5JVL4 TTC23L Homo sapiens Q6PF05 32296183
Intra
EFHC1 Q5JVL4 TTC23L Homo sapiens Q6PF05 32296183
Intra
EFHC1 Q5JVL4 TTC23L Homo sapiens Q6PF05 32296183
Intra
EFHC1 Q5JVL4 RCN1 Homo sapiens Q15293 32296183
Intra
EFHC1 Q5JVL4 RCN1 Homo sapiens Q15293 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Epilepsy, Myoclonic Juvenile
  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]

Epilepsy, Juvenile Absence 1
  • Epilepsy, Juvenile Absence, Susceptibility To, 1

  • EJA1

  • JAE1

  • Juvenile Absence Epilepsy 1

  • Susceptibility To Juvenile Absence Epilepsy 1

  • Epilepsy, Juvenile Absence, Susceptibility To, Type 1

  • Absence Epilepsy

Juvenile Absence Epilepsy
  • Epilepsy Juvenile Absence

  • Jae

  • Childhood Absence Epilepsy

  • Absence Epilepsy

Adolescence-Adult Electroclinical Syndrome
Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Epilepsy, Idiopathic Generalized
  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Epilepsy With Generalized Tonic-Clonic Seizures
  • Tonic-Clonic Epilepsy

  • Epileptic Seizures, Tonic-Clonic

  • Grand Mal Epilepsy

  • Epilepsy, Tonic-Clonic

Unverricht-Lundborg Syndrome
  • Unverricht-Lundborg Disease

  • Epm1

  • Myoclonic Epilepsy Of Unverricht And Lundborg

  • Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

  • Unverricht - Lundborg Disease

  • Unverricht'S Disease

  • Epilepsy, Progressive Myoclonic Type 1

  • Epilepsy, Progressive Myoclonus 1

  • Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

  • Baltic Myoclonic Epilepsy

  • Baltic Myoclonus

  • Baltic Myoclonus Epilepsy

  • Lundborg-Unverricht Syndrome

  • Mediterranean Myoclonic Epilepsy

  • Pme

  • Progressive Myoclonic Epilepsy

  • Progressive Myoclonus Epilepsy 1

  • Uld

  • Myoclonic Epilepsies, Progressive

Childhood Electroclinical Syndrome
Early Onset Absence Epilepsy
Epilepsy, Familial Temporal Lobe, 1
  • ETL1

  • Adpeaf

  • Adlte

  • Epilepsy, Partial, With Auditory Features

  • Autosomal Dominant Partial Epilepsy With Auditory Features

  • Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

  • Familial Temporal Lobe Epilepsy 1

  • Partial Epilepsy With Auditory Features

  • Autosomal Dominant Lateral Temporal Lobe Epilepsy

  • Lateral Temporal Lobe Epilepsy Autosomal Dominant

  • Epilepsy, Temporal Lobe, Familial, Type 1

Photosensitive Epilepsy
  • Pse

  • Photogenic Epilepsy

  • Photoparoxysmal Response

  • Reflex Epilepsy, Photosensitive

  • Photoparoxysmal Response 1

Benign Neonatal Seizures
  • Benign Neonatal Epilepsy

  • Benign Familial Neonatal Seizures

  • Benign Neonatal Convulsions

  • Benign Familial Neonatal Convulsions

  • Benign Familial Neonatal Epilepsy

  • Bfne

  • Bfns

  • Seizures, Benign Neonatal

  • Neonatal Convulsions Benign

  • Epilepsy, Benign Neonatal

  • Epilepsy, Benign Neonatal, 2

  • Benign Familial Convulsion

  • Familial Benign Neonatal Epilepsy

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
  • Adnfle

  • Autosomal Dominant Sleep-Related Hypermotor Epilepsy

  • Enfl

  • Benign Familial Infantile Seizures 6

  • Benign Familial Infantile Seizures, 6

  • Nocturnal Frontal Lobe Epilepsy-4

  • Enfl1

  • Epilepsy, Nocturnal Frontal Lobe, 1

  • Epilepsy, Nocturnal Frontal Lobe, Type 1

Endocrine-Cerebroosteodysplasia
  • Endocrine-Cerebro-Osteodysplasia Syndrome

  • ECO

  • Eco Syndrome

Childhood Absence Epilepsy
  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy

Pitt-Hopkins-Like Syndrome 1
  • Cortical Dysplasia-Focal Epilepsy Syndrome

  • CDFES

  • PTHSL1

  • Cdfe Syndrome

  • Pitt-Hopkins Like Syndrome 1

  • Pitt-Hopkins-Like Syndrome-1

  • Cntnap2-Related Developmental And Epileptic Encephalopathy

  • Cntnap2-Related Dee

  • Mesh

  • D006985

  • Mesh

  • D008607

Neonatal Period Electroclinical Syndrome
Early Myoclonic Encephalopathy
  • Myoclonic Epilepsy

  • Myoclonic Seizure

  • Epilepsies, Myoclonic

  • Epileptic Seizures - Myoclonic

  • Epileptic Seizures, Myoclonic

  • Myoclonia Epileptica

  • Myoclonic Seizure Disorder

  • Early Myoclonic Encephalopathy With Suppression-Bursts

Generalized Epilepsy With Febrile Seizures Plus
  • Gefs+

  • Genetic Epilepsy With Febrile Seizures Plus

  • Generalized Epilepsy With Febrile Seizures-Plus

  • Genetic Epilepsy With Febrile Seizures-Plus

  • Epilepsy, Generalized, With Febrile Seizures Plus

Benign Epilepsy With Centrotemporal Spikes
  • Rolandic Epilepsy

  • Benign Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy

Progressive Myoclonus Epilepsy
  • Pme

  • Progressive Myoclonic Epilepsy

  • Myoclonic Epilepsies, Progressive

  • Unverricht-Lundborg Syndrome

Familial Febrile Seizures
  • Familial Febrile Convulsions

  • Feb

  • Febrile Seizures, Familial

Benign Familial Infantile Epilepsy
  • Benign Familial Infantile Seizures

  • Bfie

  • Benign Familial Infantile Convulsion

  • Bfic

  • Bfis

  • Benign Familial Infantile Convulsions

  • Familial Benign Neonatal Epilepsy

  • Watanabe-Vigevano Syndrome

Dravet Syndrome
  • Severe Myoclonic Epilepsy Of Infancy

  • Severe Myoclonic Epilepsy In Infancy

  • Smei

  • Epileptic Encephalopathy, Early Infantile, 6

  • DRVT

  • Developmental And Epileptic Encephalopathy 6a

  • Dee6a

  • Eiee6

  • Developmental And Epileptic Encephalopathy, 6

  • Dee6

  • Developmental And Epileptic Encephalopathy 6

  • Early Infantile Epileptic Encephalopathy 6

  • Myoclonic Epilepsy, Severe, Of Infancy

  • Sme

  • Severe Myoclonus Epilepsy Of Infancy

  • Borderline Smei

  • Smeb

  • Smeb-M

  • Smeb-O

  • Smeb-Sw

  • Smei-Borderland

  • Smei-Borderland More Than One Feature

  • Smei-Borderland-Myoclonic Seizures

  • Smei-Borderland-Spike Wave

  • Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

  • ICEGTC

  • Infantile Severe Myoclonic Epilepsy

  • Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EFHC1 RGD RGD:1587365
Felis catus EFHC1 VGNC VGNC:102417
Bos taurus EFHC1 VGNC VGNC:28351
Canis familiaris EFHC1 VGNC VGNC:40223
Macaca mulatta EFHC1 VGNC VGNC:72052
Mus musculus EFHC1 MGD MGI:1919127
Others EFHC1 NCBI