A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
暂无分享,去创建一个
N. Matsumoto | M. Urushihara | T. Mizuguchi | A. Fujita | Takahiro Tayama | Y. Toda | A. Goji | M. Sakamoto | T. Mori
[1] I. Scheffer,et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions , 2022, Epilepsia.
[2] N. Matsumoto,et al. De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality. , 2021, Human molecular genetics.
[3] M. Frith,et al. Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder , 2021, Journal of Human Genetics.
[4] Long Guo,et al. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses , 2020, Human mutation.
[5] A. Scimemi,et al. Current knowledge of SLC6A1-related neurodevelopmental disorders , 2020, Brain communications.
[6] Martin C. Frith,et al. A pipeline for complete characterization of complex germline rearrangements from long DNA reads , 2020, Genome Medicine.
[7] N. Matsumoto,et al. Clinical and genetic characteristics of patients with Doose syndrome , 2020, Epilepsia open.
[8] R. Płoski,et al. Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15. , 2018, European journal of medical genetics.
[9] G. Carvill,et al. Defining the phenotypic spectrum of SLC6A1 mutations , 2018, Epilepsia.
[10] A. Schousboe,et al. The Subcellular Localization of GABA Transporters and Its Implication for Seizure Management , 2015, Neurochemical Research.
[11] N. Danbolt,et al. GABA and Glutamate Transporters in Brain , 2013, Front. Endocrinol..
[12] E. Banks,et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. , 2012, American journal of human genetics.
[13] Tom Walsh,et al. Accurate and exact CNV identification from targeted high-throughput sequence data , 2011, BMC Genomics.
[14] H. Doose,et al. Centrencephalic Myoclonic-Astatic Petit Mal1 – Clinical and genetic investigations , 1970, Neuropadiatrie.