Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: Role of EFHC1 or Myoclonin1
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Clinical Neurology,Neurology
Reference15 articles.
1. Mutations in EFHC1 cause juvenile myoclonic epilepsy;Suzuki;Nat Genet,2004
2. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy;Medina;Neurology,2008
3. The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death;Katano;Cell Calcium,2012
4. The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella;Ikeda;FEBS Lett,2005
5. Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia;Suzuki;Biochem Biophys Res Commun,2008
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1. Facial Emotion Recognition in Patients with Juvenile Myoclonic Epilepsy;Journal of Clinical Medicine;2023-06-17
2. Neuropsychiatric comorbidities in genetic/idiopathic generalized epilepsies and their effects on psychosocial outcomes;Epilepsy & Behavior;2021-11
3. Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients;BioMed Research International;2021-04-20
4. Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit;Epilepsia Open;2020-03-12
5. Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey;Turkish Journal Of Neurology;2019-12-24
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