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Articles published in Brain

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Single Articles


    June 2022
  1. 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.
    PubMed     Abstract available


  2. 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.
    PubMed    


  3. 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.
    PubMed     Abstract available


  4. 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.
    PubMed     Abstract available


    May 2022
  5. 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.
    PubMed     Abstract available


  6. 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.
    PubMed    


  7. 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.
    PubMed     Abstract available


    April 2022
  8. 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.
    PubMed     Abstract available


  9. 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.
    PubMed     Abstract available


  10. LAU LA, Staley KJ, Lillis KP
    In vitro ictogenesis is stochastic at the single neuron level.
    Brain. 2022;145:531-541.
    PubMed     Abstract available


  11. GREEN TE, Scheffer IE, Berkovic SF, Hildebrand MS, et al
    UNC13B and focal epilepsy.
    Brain. 2022 Apr 5. pii: 6563435. doi: 10.1093.
    PubMed    


  12. QIAO JD, Li X, Li J, Guo QH, et al
    Reply: UNC13B and focal epilepsy.
    Brain. 2022 Apr 5. pii: 6563436. doi: 10.1093.
    PubMed    


  13. 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.
    PubMed     Abstract available


    March 2022
  14. 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.
    PubMed    


  15. 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.
    PubMed     Abstract available


  16. 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.
    PubMed     Abstract available


  17. 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.
    PubMed     Abstract available


  18. 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.
    PubMed    


  19. 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.
    PubMed    


  20. 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.
    PubMed    


    February 2022
  21. 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.
    PubMed     Abstract available


  22. 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.
    PubMed     Abstract available


  23. 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.
    PubMed     Abstract available


    January 2022
  24. 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.
    PubMed     Abstract available


    December 2021
  25. 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.
    PubMed     Abstract available


  26. 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.
    PubMed     Abstract available



  27. Corrigendum to: UNC13B variants associated with partial epilepsy with favourable outcome.
    Brain. 2021 Dec 13. pii: 6460359. doi: 10.1093.
    PubMed    


    November 2021
  28. 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.
    PubMed     Abstract available


  29. 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.
    PubMed     Abstract available


  30. 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.
    PubMed     Abstract available


  31. 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.
    PubMed     Abstract available


  32. 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.
    PubMed     Abstract available


  33. 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.
    PubMed     Abstract available


    October 2021
  34. 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.
    PubMed     Abstract available


  35. 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.
    PubMed     Abstract available


  36. 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.
    PubMed     Abstract available


  37. 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.
    PubMed     Abstract available


    September 2021
  38. 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.
    PubMed    


  39. 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.
    PubMed     Abstract available


  40. 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.
    PubMed     Abstract available


  41. 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.
    PubMed     Abstract available


  42. 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.
    PubMed     Abstract available


  43. FROHLICH J, Toker D, Monti MM
    Consciousness among delta waves: a paradox?
    Brain. 2021;144:2257-2277.
    PubMed     Abstract available


    July 2021
  44. 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.
    PubMed     Abstract available


    June 2021
  45. 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.
    PubMed     Abstract available


  46. 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.
    PubMed     Abstract available


  47. 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.
    PubMed     Abstract available


  48. SHAH MM
    A new HCN1 channelopathy: implications for epilepsy.
    Brain. 2021 Jun 11. pii: 6296591. doi: 10.1093.
    PubMed    


  49. 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.
    PubMed    


    May 2021
  50. 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.
    PubMed     Abstract available


  51. 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.
    PubMed     Abstract available


    April 2021
  52. 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.
    PubMed     Abstract available


  53. 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.
    PubMed     Abstract available


  54. 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.
    PubMed     Abstract available


  55. 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.
    PubMed     Abstract available


  56. MAGLOIRE V, Lignani G
    DBS for refractory epilepsy: is closed-loop stimulation of the medial septum the way forward?
    Brain. 2021;144:702-705.
    PubMed    


  57. 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.
    PubMed     Abstract available


    March 2021
  58. 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.
    PubMed     Abstract available


  59. 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.
    PubMed     Abstract available


  60. 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.
    PubMed     Abstract available


    February 2021
  61. SEN A, Romoli M
    Pathological brain ageing in epilepsy and dementia: two sides of the same coin?
    Brain. 2021;144:9-11.
    PubMed    


    January 2021
  62. 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.
    PubMed     Abstract available


  63. 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.
    PubMed     Abstract available


    December 2020
  64. FEDERICO P, Wiebe S
    Is bad brain worse than no brain? Salvaging the cerebral cortex in epilepsy.
    Brain. 2020;143:3172-3175.
    PubMed    


  65. 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.
    PubMed     Abstract available


  66. SPECCHIO N, Curatolo P
    Developmental and epileptic encephalopathies: what we do and do not know.
    Brain. 2020 Dec 5. pii: 6024801. doi: 10.1093.
    PubMed     Abstract available


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


  68. 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.
    PubMed    


    November 2020
  69. 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.
    PubMed     Abstract available


  70. 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.
    PubMed     Abstract available


  71. 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.
    PubMed     Abstract available


    October 2020
  72. 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.
    PubMed    


  73. 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.
    PubMed    


    September 2020
  74. 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.
    PubMed     Abstract available


  75. 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.
    PubMed     Abstract available


    August 2020
  76. 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.
    PubMed     Abstract available


    July 2020
  77. 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.
    PubMed     Abstract available


    June 2020
  78. 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.
    PubMed     Abstract available


  79. 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.
    PubMed     Abstract available


  80. 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.
    PubMed     Abstract available


  81. 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.
    PubMed     Abstract available


    April 2020
  82. 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.
    PubMed     Abstract available


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


  84. 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.
    PubMed    


  85. 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.
    PubMed     Abstract available


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


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


  88. JHA A, Teotonio R, Smith AL, Bomanji J, et al
    Metabolic lesion-deficit mapping of human cognition.
    Brain. 2020;143:877-890.
    PubMed     Abstract available


    February 2020
  89. 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.
    PubMed     Abstract available


  90. 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.
    PubMed     Abstract available


    January 2020
  91. ROWE J
    Editorial.
    Brain. 2020;143:1.
    PubMed    


  92. 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.
    PubMed     Abstract available


  93. 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.
    PubMed     Abstract available


  94. 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.
    PubMed     Abstract available


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