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About 15 results

ALLMedicine™ Autosomal Dominant Partial Epilepsy With Auditory Features Center

Research & Reviews  5 results

A novel LGI1 missense mutation causes dysfunction in cortical neuronal migration and se...
https://doi.org/10.1016/j.brainres.2019.146332
Brain Research; Liu F, Du C et. al.

Jul 14th, 2019 - To explore the causative genes and pathogenesis of autosomal dominant partial epilepsy with auditory features in a large Chinese family that includes 7 patients over four generations. We used targeted exome sequencing and Sanger sequencing to vali...

MRI in Autosomal Dominant Partial Epilepsy With Auditory Features
https://clinicaltrials.gov/ct2/show/NCT00072813

Jul 2nd, 2017 - Objectives: to study potential structural and functional abnormalities in patients with an inherited form of epilepsy. Study Population: Patients with autosomal dominant partial epilepsy with auditory features, a newly described syndrome, asymptom...

Autosomal dominant partial epilepsy with auditory features
https://rarediseases.info.nih.gov/diseases/2257/autosomal-dominant-partial-epilepsy-with-auditory-features

Mar 31st, 2016 - Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and pa...

Homozygous inactivation of the LGI1 gene results in hypomyelination in the peripheral a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885985
Journal of Neuroscience Research; Silva J, Sharma S et. al.

Sep 22nd, 2010 - Mutations in the LGI1 gene in humans predispose to the development of autosomal dominant partial epilepsy with auditory features (ADPEAF). Homozygous inactivation of the Lgi1 gene in mice results in an epilepsy phenotype characterized by clonic se...

Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and ep...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840530
Proceedings of the National Academy of Sciences of the Un... Fukata Y, Lovero KL et. al.

Feb 6th, 2010 - Epilepsy is a devastating and poorly understood disease. Mutations in a secreted neuronal protein, leucine-rich glioma inactivated 1 (LGI1), were reported in patients with an inherited form of human epilepsy, autosomal dominant partial epilepsy wi...

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Clinicaltrials.gov  1 results

MRI in Autosomal Dominant Partial Epilepsy With Auditory Features
https://clinicaltrials.gov/ct2/show/NCT00072813

Jul 2nd, 2017 - Objectives: to study potential structural and functional abnormalities in patients with an inherited form of epilepsy. Study Population: Patients with autosomal dominant partial epilepsy with auditory features, a newly described syndrome, asymptom...

see more →