Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3T brain MRI study with advanced neuroimaging methodsKatarína eská atefánia Aulická aOndej Horák aPavlína Danhofer aPavel íha bRadek Mareek bJan enkyík c...
Epilepsy Res. 110, 132-138.Dazzo, E. et al. Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras. Epilepsy Res. 110, 132-138 (2015).Dazzo, E., Santulli, L., Posar, A., Fattouch, J., ...
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Autosomal dominant inheritance Autosomal Dominant Lamellar Ichthyosis Autosomal Dominant Lateral Temporal Lobe Epilepsy Autosomal Dominant Macular Degeneration Autosomal Dominant Macular Dystrophy autosomal dominant medullary cystic kidney disease autosomal dominant microcephaly Autosomal Dominant Motor System Degeneration ...
autosomal dominant disease- a disease caused by a dominant mutant gene on an autosome autosomal dominant disorder congenital disease,genetic abnormality,genetic defect,genetic disease,genetic disorder,hereditary condition,hereditary disease,inherited disease,inherited disorder- a disease or disorder that is in...
autosomal dominant disorder- a disease caused by a dominant mutant gene on an autosome autosomal dominant disease congenital disease,genetic abnormality,genetic defect,genetic disease,genetic disorder,hereditary condition,hereditary disease,inherited disease,inherited disorder- a disease or disorder that is in...
Autosomal dominant epilepsy with auditory features (ADEAF) is clinically characterized by focal seizures with prominent auditory or aphasic auras and absence of structural brain abnormalities. Mutations in LGI1 and RELN genes account for the disorder in about 50% of ADEAF families. In a recent pa...
clinicalEEGcharacteristicgeneticObjective To explore the clinical,imaging,EEG characteristic and genetic cause of autosomal dominant lateral temporal lobe epilepsy(ADLTE)in Chinese ADLTE patients from four Han Chinese families.Methods The clinical data,electrophysiological findings and brain images of Chinese ...
Many retinal degenerative diseases are caused by the loss of retinal ganglion cells (RGCs). Autosomal dominant optic atrophy is the most common hereditary optic atrophy disease and is characterized by central vision loss and degeneration of RGCs. Current
Here, we perform single-nucleus RNA-sequencing (snRNA-seq) on nearly 300,000 nuclei from the parietal cortex of AD autosomal dominant (APP and PSEN1) and risk-modifying variant (APOE, TREM2 and MS4A) carriers. Within individual cell types, we capture genes commonly dysregulated across variant...