anti-EF-Hand Domain (C-terminal) Containing 1 (EFHC1) Antibodies

Xenopus laevis EF-Hand Domain (C-terminal) Containing 1 (EFHC1) interaction partners

1. EFHC1 domains are involved in ciliary localization, ciliogenesis, and the regulation of Wnt8a (show WNT8A Antibodies) signaling

Human EF-Hand Domain (C-terminal) Containing 1 (EFHC1) interaction partners

1. EFHC1 mutations cause microtubule-associated defects in juvenile myoclonic epilepsy

2. NHGRI gene-level evidence and variant-level evidence establish EFHC1 as the first non-ion channel microtubule-associated protein whose mutations disturb R-type VDCC and TRPM2 calcium currents in overgrown synapses and dendrites within abnormally migrated dislocated neurons, thus explaining CTC convulsions and "microdysgenesis" neuropathology of juvenile myoclonic epilepsy

3. some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy

4. Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy.

5. Three SNP alleles in BRD2 (show BRD2 Antibodies), Cx-36 (show GJD2 Antibodies), and ME2 (show CELSR1 Antibodies) and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.

6. These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established.

7. we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients.

8. The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 (show CLU Antibodies) channel linked to cell death.

9. Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals

10. Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division.

Mouse (Murine) EF-Hand Domain (C-terminal) Containing 1 (EFHC1) interaction partners

1. We reviewed whether variants damage EFHC1 functions, whether efhc1(-/-) KO mice recapitulate CTC convulsions and "microdysgenesis" neuropathology, and whether supernumerary synaptic and dendritic phenotypes can be rescued in the fly model when EFHC1 is overexpressed

2. Efhc1 (-/-) mouse did not show any abnormalities such as disruption of mitotic spindle structure, impaired M-phase progression, and an increase of apoptosis. Further investigations are required to clarify these discrepancies.

3. The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 (show TRPM2 Antibodies) channel linked to cell death.

4. In the adult, low mRNA expression was detected in several brain structures such as cortex, striatum, hippocampus and cerebellum. At E16 (show SLC7A5 Antibodies), EFHC1 mRNA was shown to be expressed in all layers of cortex and not only in cells lining ventricles.

5. Data report the expression profile and distribution of Efhc1 messenger RNA during mouse and rat brain development, and suggest that Efhc1 expression is more important during initial phases of brain development.

6. Decrease or loss of function of myoclonin1 may be the molecular basis for epilepsies caused by EFHC1 mutations.

7. Efhc1 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.