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Epilepsy

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Articles published in
Brain
    July 2022
  1. SALVATI KA, Ritger ML, Davoudian PA, O'Dell F, et al
    AMPK-mediated potentiation of GABAergic signalling drives hypoglycaemia-provoked spike-wave seizures.
    Brain. 2022;145:2332-2346.
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  2. NITSCHKE S, Sullivan MA, Mitra S, Marchioni CR, et al
    Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
    Brain. 2022;145:2361-2377.
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  3. ESPINO PH, Toro-Perez JE, Shkrum S, Burneo JG, et al
    Cranial trepanation in pre-Columbian Peruvian cultures: was it an option to treat epilepsy?
    Brain. 2022 Jul 27. pii: 6650781. doi: 10.1093.
    >> Share

  4. HALE AT, Chari A, Scott RC, Cross JH, et al
    Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?
    Brain. 2022 Jul 27. pii: 6650340. doi: 10.1093.
    >> Share

  5. COOPER MS, Mackay MT, Dagia C, Fahey MC, et al
    Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.
    Brain. 2022 Jul 24. pii: 6649422. doi: 10.1093.
    >> Share

  6. GOZZELINO L, Kochlamazashvili G, Baldassari S, Mackintosh AI, et al
    Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
    Brain. 2022 Jul 4. pii: 6628565. doi: 10.1093.
    >> Share

    June 2022
  7. PIPER RJ, Richardson RM, Worrell G, Carmichael DW, et al
    Towards network-guided neuromodulation for epilepsy.
    Brain. 2022 Jun 30. pii: 6623456. doi: 10.1093.
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  8. CALHOUN JD, Aziz MC, Happ HC, Gunti J, et al
    mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
    Brain. 2022;145:1939-1948.
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  9. AVANSINI SH, Puppo F, Adams JW, Vieira AS, et al
    Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model.
    Brain. 2022;145:1962-1977.
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  10. BRUNKLAUS A, Brunger T, Feng T, Fons C, et al
    The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
    Brain. 2022 Jun 13. pii: 6606157. doi: 10.1093.
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  11. LEMARECHAL JD, Jedynak M, Trebaul L, Boyer A, et al
    A brain atlas of axonal and synaptic delays based on modelling of cortico-cortical evoked potentials.
    Brain. 2022;145:1653-1667.
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  12. XIAN J, Parthasarathy S, Ruggiero SM, Balagura G, et al
    Assessing the landscape of STXBP1-related disorders in 534 individuals.
    Brain. 2022;145:1668-1683.
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    May 2022
  13. BERNABEI JM, Sinha N, Arnold TC, Conrad E, et al
    Normative intracranial EEG maps epileptogenic tissues in focal epilepsy.
    Brain. 2022 May 31. pii: 6595865. doi: 10.1093.
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  14. HUBERFELD G, Pallud J, Drouin E, Hautecoeur P, et al
    On St Teresa of Avila's mysticism: epilepsy and/or ecstasy?
    Brain. 2022 May 16. pii: 6586223. doi: 10.1093.
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  15. CACIAGLI L, Paquola C, He X, Vollmar C, et al
    Disorganization of language and working memory systems in frontal versus temporal lobe epilepsy.
    Brain. 2022 May 2. pii: 6576654. doi: 10.1093.
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    April 2022
  16. PIROZZI F, Berkseth M, Shear R, Gonzalez L, et al
    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
    Brain. 2022;145:925-938.
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  17. SKOTTE L, Fadista J, Bybjerg-Grauholm J, Appadurai V, et al
    Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
    Brain. 2022;145:555-568.
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  18. LAU LA, Staley KJ, Lillis KP
    In vitro ictogenesis is stochastic at the single neuron level.
    Brain. 2022;145:531-541.
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  19. GREEN TE, Scheffer IE, Berkovic SF, Hildebrand MS, et al
    UNC13B and focal epilepsy.
    Brain. 2022 Apr 5. pii: 6563435. doi: 10.1093.
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  20. QIAO JD, Li X, Li J, Guo QH, et al
    Reply: UNC13B and focal epilepsy.
    Brain. 2022 Apr 5. pii: 6563436. doi: 10.1093.
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  21. VAN DER KNOOP MM, Maroofian R, Fukata Y, van Ierland Y, et al
    Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
    Brain. 2022 Apr 4. pii: 6563169. doi: 10.1093.
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    March 2022
  22. CACIAGLI L, Bassett DS
    Epilepsy imaging meets machine learning: a new era of individualized patient care.
    Brain. 2022 Mar 22. pii: 6550973. doi: 10.1093.
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  23. SONODA M, Rothermel R, Carlson A, Jeong JW, et al
    Naming-related spectral responses predict neuropsychological outcome after epilepsy surgery.
    Brain. 2022 Mar 21. pii: 6551634. doi: 10.1093.
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  24. DAHIMENE S, von Elsner L, Holling T, Mattas LS, et al
    Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
    Brain. 2022 Mar 16. pii: 6549667. doi: 10.1093.
    >> Share

  25. DREIER JW, Lauersen TM, Tomson T, Plana-Ripoll O, et al
    Cause-specific mortality and life years lost in people with epilepsy: a Danish cohort study.
    Brain. 2022 Mar 2. pii: 6541147. doi: 10.1093.
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  26. DUAN J, Ye Y, Cao D, Zou D, et al
    Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
    Brain. 2022 Mar 1. pii: 6540466. doi: 10.1093.
    >> Share

  27. JOHANNESEN KM, Liu Y, Gardella E, Lerche H, et al
    Reply to: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
    Brain. 2022 Mar 1. pii: 6540465. doi: 10.1093.
    >> Share

  28. PENG BW, Tian Y, Chen L, Duan LF, et al
    Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
    Brain. 2022 Mar 1. pii: 6540464. doi: 10.1093.
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    February 2022
  29. KLOCKNER C, Murray JPF, Tavasoli M, Sticht H, et al
    Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
    Brain. 2022 Feb 23. pii: 6535865. doi: 10.1093.
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  30. NIEMEYER JE, Gadamsetty P, Chun C, Sylvester S, et al
    Seizures initiate in zones of relative hyperexcitation in a zebrafish epilepsy model.
    Brain. 2022 Feb 23. pii: 6535115. doi: 10.1093.
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  31. STUDER F, Jarre G, Pouyatos B, Nemoz C, et al
    Aberrant neuronal connectivity in the cortex drives generation of seizures in rat absence epilepsy.
    Brain. 2022 Feb 9. pii: 6525654. doi: 10.1093.
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    January 2022
  32. TAYLOR PN, Papasavvas CA, Owen TW, Schroeder GM, et al
    Normative brain mapping of interictal intracranial EEG to localize epileptogenic tissue.
    Brain. 2022 Jan 24. pii: 6514463. doi: 10.1093.
    >> Share

    December 2021
  33. WANG S, Pan J, Zhao M, Wang X, et al
    Characteristics, surgical outcomes, and influential factors of epilepsy in Sturge-Weber syndrome.
    Brain. 2021 Dec 21. pii: 6473914. doi: 10.1093.
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  34. RANASINGHE KG, Kudo K, Hinkley L, Beagle A, et al
    Neuronal synchrony abnormalities associated with subclinical epileptiform activity in early onset Alzheimer's disease.
    Brain. 2021 Dec 17. pii: 6469013. doi: 10.1093.
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  35. Corrigendum to: UNC13B variants associated with partial epilepsy with favourable outcome.
    Brain. 2021 Dec 13. pii: 6460359. doi: 10.1093.
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    November 2021
  36. LEE HM, Fadaie F, Gill R, Caldairou B, et al
    Decomposing MRI phenotypic heterogeneity in epilepsy: a step towards personalized classification.
    Brain. 2021 Nov 29. pii: 6446029. doi: 10.1093.
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  37. GUTH TA, Kunz L, Brandt A, Dumpelmann M, et al
    Interictal spikes with and without high-frequency oscillation have different single-neuron correlates.
    Brain. 2021;144:3078-3088.
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  38. AHONEN S, Nitschke S, Grossman TR, Kordasiewicz H, et al
    Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.
    Brain. 2021;144:2985-2993.
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  39. NGUYEN LH, Xu Y, Mahadeo T, Zhang L, et al
    Expression of 4E-BP1 in juvenile mice alleviates mTOR-induced neuronal dysfunction and epilepsy.
    Brain. 2021 Nov 25. pii: 6440037. doi: 10.1093.
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  40. PARK BY, Lariviere S, Rodriguez-Cruces R, Royer J, et al
    Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
    Brain. 2021 Nov 19. pii: 6432033. doi: 10.1093.
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  41. MANIVANNAN SN, Roovers J, Smal N, Myers CT, et al
    De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
    Brain. 2021 Nov 11. pii: 6425675. doi: 10.1093.
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    October 2021
  42. SIMPSON HD, Foster E, Ademi Z, Lawn N, et al
    Markov modelling of treatment response in a 30-year cohort study of newly diagnosed epilepsy.
    Brain. 2021 Oct 25. pii: 6409854. doi: 10.1093.
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  43. SYMONDS JD, Elliott KS, Shetty J, Armstrong M, et al
    Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
    Brain. 2021;144:2879-2891.
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  44. AHRING PK, Liao VWY, Gardella E, Johannesen KM, et al
    Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
    Brain. 2021 Oct 11. pii: 6388035. doi: 10.1093.
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  45. MARAFI D, Fatih JM, Kaiyrzhanov R, Ferla MP, et al
    Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
    Brain. 2021 Oct 4. pii: 6380942. doi: 10.1093.
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    September 2021
  46. HUBERFELD G, Le Van Quyen M
    Cellular correlates of epileptic spikes with high-frequency oscillations in the human temporal lobe.
    Brain. 2021 Sep 28. pii: 6377329. doi: 10.1093.
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  47. LEE KL, Abiraman K, Lucaj C, Ollerhead TA, et al
    Inhibiting with-no-lysine kinases enhances K+/Cl- cotransporter 2 activity and limits status epilepticus.
    Brain. 2021 Sep 16. pii: 6370956. doi: 10.1093.
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  48. MERMER F, Poliquin S, Rigsby K, Rastogi A, et al
    Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
    Brain. 2021;144:2499-2512.
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  49. DURAN J, Hervera A, Markussen KH, Varea O, et al
    Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease.
    Brain. 2021;144:2349-2360.
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  50. LU J, Zhao Z, Zhang J, Wu B, et al
    Functional maps of direct electrical stimulation-induced speech arrest and anomia: a multicentre retrospective study.
    Brain. 2021;144:2541-2553.
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  51. FROHLICH J, Toker D, Monti MM
    Consciousness among delta waves: a paradox?
    Brain. 2021;144:2257-2277.
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    July 2021
  52. DE JONG J, Cutcutache I, Page M, Elmoufti S, et al
    Towards realizing the vision of precision medicine: AI based prediction of clinical drug response.
    Brain. 2021;144:1738-1750.
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    June 2021
  53. HRISTOVA K, Martinez-Gonzalez C, Watson TC, Codadu NK, et al
    Medial septal GABAergic neurons reduce seizure duration upon optogenetic closed-loop stimulation.
    Brain. 2021;144:1576-1589.
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  54. ZOU D, Wang L, Liao J, Xiao H, et al
    Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
    Brain. 2021 Jun 18. pii: 6305829. doi: 10.1093.
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  55. BONARDI CM, Heyne HO, Fiannacca M, Fitzgerald MP, et al
    KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
    Brain. 2021 Jun 11. pii: 6296590. doi: 10.1093.
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  56. SHAH MM
    A new HCN1 channelopathy: implications for epilepsy.
    Brain. 2021 Jun 11. pii: 6296591. doi: 10.1093.
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  57. CHEN Z, Anderson A, Ge Z, Kwan P, et al
    One step closer towards personalized epilepsy management.
    Brain. 2021 Jun 1. pii: 6290706. doi: 10.1093.
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    May 2021
  58. MASTALL M, Wolpert F, Gramatzki D, Imbach L, et al
    Survival of brain tumour patients with epilepsy.
    Brain. 2021 May 11. pii: 6273580. doi: 10.1093.
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  59. MIZUGUCHI T, Toyota T, Miyatake S, Mitsuhashi S, et al
    Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
    Brain. 2021;144:1103-1117.
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    April 2021
  60. REPUDI S, Steinberg DJ, Elazar N, Breton VL, et al
    Neuronal deletion of Wwox, associated with WOREE syndrome, causes epilepsy and myelin defects.
    Brain. 2021 Apr 29. pii: 6259140. doi: 10.1093.
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  61. HENIN S, Shankar A, Borges H, Flinker A, et al
    Spatiotemporal dynamics between interictal epileptiform discharges and ripples during associative memory processing.
    Brain. 2021 Apr 23. pii: 6247187. doi: 10.1093.
    >> Share

  62. VETRO A, Nielsen HN, Holm R, Hevner RF, et al
    ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
    Brain. 2021 Apr 21. pii: 6242725. doi: 10.1093.
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  63. WANG J, Qiao JD, Liu XR, Liu DT, et al
    UNC13B variants associated with partial epilepsy with favourable outcome.
    Brain. 2021 Apr 20. pii: 6239707. doi: 10.1093.
    >> Share

  64. MAGLOIRE V, Lignani G
    DBS for refractory epilepsy: is closed-loop stimulation of the medial septum the way forward?
    Brain. 2021;144:702-705.
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  65. BLEAKLEY LE, McKenzie CE, Soh MS, Forster IC, et al
    Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
    Brain. 2021 Apr 1. pii: 6208542. doi: 10.1093.
    >> Share

    March 2021
  66. NELIGAN A, Rajakulendran S, Walker MC
    Advances in the management of generalized convulsive status epilepticus: what have we learned?
    Brain. 2021 Mar 29. pii: 6199170. doi: 10.1093.
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  67. LI Q, Tavakol S, Royer J, Lariviere S, et al
    Atypical neural topographies underpin dysfunctional pattern separation in temporal lobe epilepsy.
    Brain. 2021 Mar 17. pii: 6174980. doi: 10.1093.
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  68. DIAMOND JM, Diamond BE, Trotta MS, Dembny K, et al
    Traveling waves reveal a dynamic seizure source in human focal epilepsy.
    Brain. 2021 Mar 9. pii: 6164967. doi: 10.1093.
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    February 2021
  69. SEN A, Romoli M
    Pathological brain ageing in epilepsy and dementia: two sides of the same coin?
    Brain. 2021;144:9-11.
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    January 2021
  70. TAKEUCHI Y, Harangozo M, Pedraza L, Foldi T, et al
    Closed-loop stimulation of the medial septum terminates epileptic seizures.
    Brain. 2021 Jan 27. pii: 6121201. doi: 10.1093.
    >> Share

  71. LOLK K, Dreier JW, Christensen J
    Repeated traumatic brain injury and risk of epilepsy: a Danish nationwide cohort study.
    Brain. 2021 Jan 13. pii: 6095703. doi: 10.1093.
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    December 2020
  72. FEDERICO P, Wiebe S
    Is bad brain worse than no brain? Salvaging the cerebral cortex in epilepsy.
    Brain. 2020;143:3172-3175.
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  73. KAESTNER E, Reyes A, Chen A, Rao J, et al
    Atrophy and cognitive profiles in older adults with temporal lobe epilepsy are similar to mild cognitive impairment.
    Brain. 2020 Dec 5. pii: 6024805. doi: 10.1093.
    >> Share

  74. SPECCHIO N, Curatolo P
    Developmental and epileptic encephalopathies: what we do and do not know.
    Brain. 2020 Dec 5. pii: 6024801. doi: 10.1093.
    >> Share

  75. WECKHUYSEN S, Tajsharghi H
    Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
    Brain. 2020;143:e92.
    >> Share

  76. VON HARDENBERG S, Richter MF, Hethey S, Yaspo ML, et al
    Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
    Brain. 2020;143:e91.
    >> Share

    November 2020
  77. STERIADE C, Titulaer MJ, Vezzani A, Sander JW, et al
    The association between systemic autoimmune disorders and epilepsy and its clinical implications.
    Brain. 2020 Nov 22. pii: 5998333. doi: 10.1093.
    >> Share

  78. ROSSINI L, De Santis D, Mauceri RR, Tesoriero C, et al
    Dendritic pathology, spine loss and synaptic reorganization in human cortex from epilepsy patients.
    Brain. 2020 Nov 22. pii: 5998336. doi: 10.1093.
    >> Share

  79. GALOVIC M, de Tisi J, McEvoy AW, Miserocchi A, et al
    Resective surgery prevents progressive cortical thinning in temporal lobe epilepsy.
    Brain. 2020 Nov 12. pii: 5975183. doi: 10.1093.
    >> Share

    October 2020
  80. VAN ROOTSELAAR AF, van den Maagdenberg AMJM, Depienne C, Tijssen MAJ, et al
    Pentameric repeat expansions: cortical myoclonus or cortical tremor?
    Brain. 2020;143:e86.
    >> Share

  81. LATORRE A, Rocchi L, Magrinelli F, Mulroy E, et al
    Reply: Pentameric repeat expansions: cortical myoclonus or cortical tremor? and Cortical tremor: a tantalizing conundrum between cortex and cerebellum.
    Brain. 2020;143:e88.
    >> Share

    September 2020
  82. TIDBALL AM, Lopez-Santiago LF, Yuan Y, Glenn TW, et al
    Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
    Brain. 2020 Sep 24. pii: 5910751. doi: 10.1093.
    >> Share

  83. LATORRE A, Rocchi L, Magrinelli F, Mulroy E, et al
    Unravelling the enigma of cortical tremor and other forms of cortical myoclonus.
    Brain. 2020;143:2653-2663.
    >> Share

    August 2020
  84. HATTON SN, Huynh KH, Bonilha L, Abela E, et al
    White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study.
    Brain. 2020 Aug 20. pii: 5894684. doi: 10.1093.
    >> Share

    July 2020
  85. NEURAY C, Maroofian R, Scala M, Sultan T, et al
    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
    Brain. 2020 Jul 23. pii: 5875729. doi: 10.1093.
    >> Share

    June 2020
  86. PARRAS A, de Diego-Garcia L, Alves M, Beamer E, et al
    Polyadenylation of mRNA as a novel regulatory mechanism of gene expression in temporal lobe epilepsy.
    Brain. 2020 Jun 28. pii: 5864444. doi: 10.1093.
    >> Share

  87. AMADOR A, Bostick CD, Olson H, Peters J, et al
    Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.
    Brain. 2020 Jun 24. pii: 5861741. doi: 10.1093.
    >> Share

  88. VARDAR G, Gerth F, Schmitt XJ, Rautenstrauch P, et al
    Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.
    Brain. 2020 Jun 23. pii: 5861027. doi: 10.1093.
    >> Share

  89. NIESTROJ LM, Perez-Palma E, Howrigan DP, Zhou Y, et al
    Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
    Brain. 2020 Jun 22. pii: 5860794. doi: 10.1093.
    >> Share

    April 2020
  90. CHATRON N, Becker F, Morsy H, Schmidts M, et al
    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
    Brain. 2020 Apr 13. pii: 5819590. doi: 10.1093.
    >> Share

  91. LEMPERT T, Seemungal BM
    How to define migraine with brainstem aura?
    Brain. 2020 Apr 13. pii: 5819589. doi: 10.1093.
    >> Share

  92. VON ELLENRIEDER N, Koupparis A, Gotman J
    Interactions of interictal epileptic discharges with sleep slow waves and spindles.
    Brain. 2020 Apr 10. pii: 5818813. doi: 10.1093.
    >> Share

  93. RUBIN DB, Angelini B, Shoukat M, Chu CJ, et al
    Electrographic predictors of successful weaning from anaesthetics in refractory status epilepticus.
    Brain. 2020 Apr 8. pii: 5817928. doi: 10.1093.
    >> Share

  94. RUEGG S, Sutter R
    All in the numbers? Computational prediction of optimal anaesthetic weaning in status epilepticus.
    Brain. 2020;143:1048-1050.
    >> Share

    March 2020
  95. BENKE TA, Kind PC
    Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder.
    Brain. 2020;143:716-718.
    >> Share

  96. JHA A, Teotonio R, Smith AL, Bomanji J, et al
    Metabolic lesion-deficit mapping of human cognition.
    Brain. 2020;143:877-890.
    >> Share

    February 2020
  97. CONRAD EC, Tomlinson SB, Wong JN, Oechsel KF, et al
    Spatial distribution of interictal spikes fluctuates over time and localizes seizure onset.
    Brain. 2020;143:554-569.
    >> Share

  98. LAMMERTSE HCA, van Berkel AA, Iacomino M, Toonen RF, et al
    Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
    Brain. 2020;143:441-451.
    >> Share

    January 2020
  99. ROWE J
    Editorial.
    Brain. 2020;143:1.
    >> Share

  100. HE X, Chaitanya G, Asma B, Caciagli L, et al
    Disrupted basal ganglia-thalamocortical loops in focal to bilateral tonic-clonic seizures.
    Brain. 2020;143:175-190.
    >> Share

  101. HUIN V, Barbier M, Bottani A, Lobrinus JA, et al
    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
    Brain. 2020;143:303-319.
    >> Share

  102. VAN BERGEN NJ, Guo Y, Al-Deri N, Lipatova Z, et al
    Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
    Brain. 2020;143:112-130.
    >> Share


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