Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death

(2012) Masahiro Katano et al.   CELL CALCIUM

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

(2012) Itai Berger et al.   EPILEPSIA

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy

(2012) Aurelio Jara-Prado et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila

(2011) Maria Giovanna Rossetto et al.   HUMAN MOLECULAR GENETICS

Strategies for Analyzing Neuronal Progenitor Development and Neuronal Migration in the Developing Cerebral Cortex

(2010) Holden Higginbotham et al.   CEREBRAL CORTEX

Neuronal migration mechanisms in development and disease

(2010) Manuel Valiente et al.   CURRENT OPINION IN NEUROBIOLOGY

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

(2009) Eric Marsh et al.   BRAIN

Elongator Controls the Migration and Differentiation of Cortical Neurons through Acetylation of α-Tubulin

(2009) Catherine Creppe et al.   CELL

Distribution of EFHC1 or Myoclonin 1 in mouse neural structures

(2009) Christine Léon et al.   EPILEPSY RESEARCH

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

(2009) Toshimitsu Suzuki et al.   HUMAN MOLECULAR GENETICS

EFHC1 interacts with microtubules to regulate cell division and cortical development

(2009) Laurence de Nijs et al.   NATURE NEUROSCIENCE

Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects

(2009) Xavier H. Jaglin et al.   TRENDS IN GENETICS

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia

(2008) Toshimitsu Suzuki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Modes and Mishaps of Neuronal Migration in the Mammalian Brain

(2008) C. Metin et al.   JOURNAL OF NEUROSCIENCE

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

(2008) M. T. Medina et al.   NEUROLOGY