A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation

[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.