Neourobiology of human epilepsy: genes, cellular mechanisms,network and whole brain [ 2010 - 2015 ]

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• Associated with 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
  handle : 2440/77241
  
• Associated with 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
  handle : 11343/41366
  
• Associated with A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
  handle : 2440/92759
  
• Associated with A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation
  URI : researchoutputs.unisa.edu.au/1959.8/158828
  
• Associated with Absence epilepsy subnetworks revealed by event-related independent components analysis of functional magnetic resonance imaging
  handle : 11343/41368
  
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• Associated with An automated method for identifying artifact in independent component analysis of resting-state fMRI
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• Associated with Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
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• Associated with Changes in singing performance and fMRI activation following right temporal lobe surgery
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• Associated with Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
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• Associated with Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
  handle : 11343/41077
  
• Associated with Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy
  URI : researchoutputs.unisa.edu.au/11541.2/116752
  
• Associated with Familial focal epilepsy with variable foci mapped to chromosome 22q12 : expansion of the phenotypic spectrum
  URI : researchoutputs.unisa.edu.au/1959.8/128573
  
• Associated with Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum
  handle : 11343/41354
  
• Associated with Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome
  URI : researchoutputs.unisa.edu.au/11541.2/111679
  
• Associated with GRIN2A mutations cause epilepsy-aphasia spectrum disorders
  handle : 11343/41806
  
• Associated with Genetics of epilepsy: the testimony of twins in the molecular era
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• Associated with Genetics of vasovagal syncope
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• Associated with HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
  handle : 2440/92072
  
• Associated with Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes
  handle : 11343/44094
  
• Associated with Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome
  handle : 2440/92969
  
• Associated with KCNT1 Gain of Function in 2 Epilepsy Phenotypes is Reversed by Quinidine
  handle : 11343/43882
  
• Associated with KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
  handle : 2440/92761
  
• Associated with Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFbeta-mediated axonogenesis
  handle : 2440/79636
  
• Associated with Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
  URI : researchoutputs.unisa.edu.au/1959.8/131538
  
• Associated with Mutations in KCNT1 cause a spectrum of focal epilepsies
  URI : researchoutputs.unisa.edu.au/11541.2/111684
  
• Associated with Mutations in Mammalian Target of Rapamycin Regulator DEPDC5 Cause Focal Epilepsy with Brain Malformations
  handle : 11343/43884
  
• Associated with Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies
  URI : researchoutputs.unisa.edu.au/1959.8/154183
  
• Associated with Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies
  handle : 11343/41367
  
• Associated with Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies
  handle : 2440/93382
  
• Associated with Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
  handle : 2440/87078
  
• Associated with Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
  URI : researchoutputs.unisa.edu.au/11541.2/111695
  
• Associated with Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
  handle : 2440/92303
  
• Associated with PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
  handle : 11343/45139
  
• Associated with PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
  URI : researchoutputs.unisa.edu.au/1959.8/122843
  
• Associated with PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
  URI : researchoutputs.unisa.edu.au/1959.8/125318
  
• Associated with PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
  handle : 11343/54886
  
• Associated with Reading difficulty is associated with failure to lateralize temporooccipital function
  handle : 11343/41379
  
• Associated with Seizures are regulated by ubiquitin-specific peptidase 9 x-linked (USP9X), a de-ubiquitinase
  handle : 2440/97196
  
• Associated with Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
  handle : 11343/41805
  
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