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Articles published in Brain

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Single Articles


    November 2022
  1. MASALA N, Pofahl M, Haubrich AN, Islam KUS, et al
    Targeting aberrant dendritic integration to treat cognitive comorbidities of epilepsy.
    Brain. 2022 Nov 30:awac455. doi: 10.1093.
    PubMed     Abstract available


  2. IKOMA Y, Sasaki D, Matsui K
    Local brain environment changes associated with epileptogenesis.
    Brain. 2022 Nov 25:awac355. doi: 10.1093.
    PubMed     Abstract available


  3. FERREIRA-ATUESTA C, de Tisi J, McEvoy AW, Miserocchi A, et al
    Predictive models for starting antiseizure medication withdrawal following epilepsy surgery in adults.
    Brain. 2022 Nov 23:awac437. doi: 10.1093.
    PubMed     Abstract available


  4. GUNNARSDOTTIR KM, Li A, Smith RJ, Kang JY, et al
    Source-sink connectivity: a novel interictal EEG marker for seizure localization.
    Brain. 2022;145:3901-3915.
    PubMed     Abstract available


  5. SINHA N
    Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?
    Brain. 2022;145:3735-3737.
    PubMed    


  6. LITT B
    Engineers drive new directions in translational epilepsy research.
    Brain. 2022;145:3725-3726.
    PubMed    


  7. MEADOR KJ, Li Y
    How does foetal exposure to valproate produce adverse neurodevelopmental outcomes?
    Brain. 2022;145:3733-3734.
    PubMed    


  8. FELEKE R, Jazayeri D, Abouzeid M, Powell KL, et al
    Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability.
    Brain. 2022;145:3832-3842.
    PubMed     Abstract available


  9. SMITH RJ, Hays MA, Kamali G, Coogan C, et al
    Stimulating native seizures with neural resonance: a new approach to localize the seizure onset zone.
    Brain. 2022;145:3886-3900.
    PubMed     Abstract available


  10. IFFLAND PH, Everett ME, Cobb-Pitstick KM, Bowser LE, et al
    NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
    Brain. 2022;145:3872-3885.
    PubMed     Abstract available


    October 2022
  11. TROSCHER AR, Mair KM, de Juan LV, Kock U, et al
    Temporal lobe epilepsy with GAD antibodies: neurons killed by T cells not by complement membrane attack complex.
    Brain. 2022 Oct 31. pii: 6781008. doi: 10.1093.
    PubMed     Abstract available


  12. SCHILLER K, Berrahmoune S, Dassi C, Corriveau I, et al
    Randomized placebo-controlled crossover trial of memantine in children with epileptic encephalopathy.
    Brain. 2022 Oct 18. pii: 6763140. doi: 10.1093.
    PubMed     Abstract available



  13. Correction to: Normative intracranial EEG maps epileptogenic tissues in focal epilepsy.
    Brain. 2022 Oct 14. pii: 6761330. doi: 10.1093.
    PubMed    


  14. LOPEZ-RIVERA JA, Leu C, Macnee M, Khoury J, et al
    The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
    Brain. 2022 Oct 13. pii: 6759799. doi: 10.1093.
    PubMed     Abstract available


    September 2022
  15. FRENCH CR
    Exciting insights into tumour-associated epilepsy with electrophysiological and optical recording.
    Brain. 2022 Sep 23. pii: 6711729. doi: 10.1093.
    PubMed    


  16. CUROT J, Barbeau E, Despouy E, Denuelle M, et al
    Local neuronal excitation and global inhibition during epileptic fast ripples in humans.
    Brain. 2022 Sep 12. pii: 6696084. doi: 10.1093.
    PubMed     Abstract available


  17. MATTISON KA, Tossing G, Mulroe F, Simmons C, et al
    ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
    Brain. 2022 Sep 8. pii: 6694191. doi: 10.1093.
    PubMed     Abstract available


    August 2022
  18. GUERRINI R, Mei D, Kerti-Szigeti K, Pepe S, et al
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
    Brain. 2022;145:2687-2703.
    PubMed     Abstract available


  19. LAI D, Gade M, Yang E, Koh HY, et al
    Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
    Brain. 2022;145:2704-2720.
    PubMed     Abstract available


  20. GROTE A, Heiland DH, Taube J, Helmstaedter C, et al
    'Hippocampal innate inflammatory gliosis only' in pharmacoresistant temporal lobe epilepsy.
    Brain. 2022 Aug 18. pii: 6670902. doi: 10.1093.
    PubMed     Abstract available


  21. SPITZER H, Ripart M, Whitaker K, D'Arco F, et al
    Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study.
    Brain. 2022 Aug 12. pii: 6659752. doi: 10.1093.
    PubMed     Abstract available


    July 2022
  22. 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.
    PubMed     Abstract available


  23. 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.
    PubMed     Abstract available


  24. 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.
    PubMed    


  25. 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.
    PubMed     Abstract available


  26. 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.
    PubMed     Abstract available


  27. 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.
    PubMed     Abstract available


    June 2022
  28. 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


  29. 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.
    PubMed     Abstract available


  30. 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.
    PubMed     Abstract available


  31. 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    


  32. 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


  33. 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
  34. 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


  35. 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    


  36. 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
  37. 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


  38. 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


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


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


  41. 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    


  42. 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
  43. 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    


  44. 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


  45. 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


  46. 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


  47. 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    


  48. 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    


  49. 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
  50. 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


  51. 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


  52. 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
  53. 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
  54. 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


  55. LEE Y, Miller MR, Fernandez MA, Berg EL, et al
    Early lysosome defects precede neurodegeneration with amyloid-beta and tau aggregation in NHE6-null rat brain.
    Brain. 2021 Dec 20. pii: 6470622. doi: 10.1093.
    PubMed     Abstract available


  56. 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



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


    November 2021
  58. 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


  59. 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


  60. 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


  61. 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


  62. 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


  63. 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
  64. 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


  65. 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


  66. 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


  67. 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
  68. 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    


  69. 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


  70. 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


  71. 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


  72. 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


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


    August 2021
  74. JOHANNESEN KM, Liu Y, Koko M, Gjerulfsen CE, et al
    Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
    Brain. 2021 Aug 25. pii: 6357698. doi: 10.1093.
    PubMed     Abstract available


    July 2021
  75. 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
  76. 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


  77. 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


  78. 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


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


  80. 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
  81. 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


  82. 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
  83. 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


  84. 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


  85. 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


  86. 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


  87. 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    


  88. 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


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