Renzo Guerrini

From Top Italian Scientists Wiki

Renzo Guerrini (born November 25, 1956, Terni - Italy) is a Professor of Child Neurology and Psychiatry at the University of Florence.

Renzo-Guerrini.jpg

Education and career

Education

  • 1982: MD, Medical School/ University of Perugia, Italy;
  • 1986: Specialist in Neurology, Medical School, Department of Neurology, University of Perugia, Italy;
  • 1988: Special Studies in Clinical Neurophysiology, Department of Neurophysiology, University of Aix-Marseille, France;
  • 1991: Specialist in Child Neurology and Psychiatry, Dep. of Developmental Neuroscience, Univ. of Pisa, Italy.

Previous positions

  • 2003- 2005: Professor of Child Neurology and Psychiatry, Clinical and Research Unit Director, Medical School and Research Hospital IRCCS Stella Maris Foundation-University of Pisa, Italy[1].
  • 2001-2003: Professor of Pediatric Neurology, Consultant Pediatric Neurologist, Institute of Child Health, Neuroscience Department, University College London and Great Ormond Street Hospital for Children [2].
  • 1999-2001: Professor of Clinical Neurosciences (Epilepsy), Director the Centre for Epilepsy, GKT Medical School and Kings College Hospital, University of London, UK [3].

Current positions

  • Professor of Child Neurology and Psychiatry, University of Florence, Director – Paediatric Neurology Unit and Laboratories and Neuroscience Excellence Centre, University Hospital IRCCS Meyer, Florence [4].
  • Director: Postgraduate training in Child Neurology and Psychiatry, University of Florence[5].
  • President of the Scientific Committee – The IMAGO 7 Foundation, Pisa. [6].

Research Interests

Renzo Guerrini’s research focuses on the neurogenetics, neurophysiology, neuroimaging, and innovative treatments of paediatric epilepsies, developmental brain abnormalities, movement disorders and intellectual disability.

Research

Renzo Guerrini has participated to, or coordinated, task forces, committees and commissions of international bodies and has been the principal investigator of numerous research projects, including DESIRE (Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention, and treatment in children with difficult to treat Epilepsy), a major EU Research project of the 7th framework programme[7]. He has served in the Editorial Board of Neurology, Epilepsia, Neuropediatrics, Journal of Child Neurology, Epileptic Disorders, Seizure, Oxford Open Neuroscience, Brain and Development.

Studies on epileptogenic genetic disorders and developmental brain abnormalities

The long-term goal of Renzo Guerrini’s research activities has been directed towards improved understanding and knowledge of the clinical, genetic and biological basis of childhood epilepsies and abnormal brain development and the development of novel treatment strategies for these disorders[8][9][10]. Most of the common forms of epilepsy and brain malformations in children are genetic and demonstrate significant clinical and genetic heterogeneity[10][11][12][13]. His initial studies identified many different nosological entities and provided key insights into their pathophysiology, in particular the syndrome of idiopathic photosensitive occipital lobe epilepsy[14][15], the syndrome of Rolandic epilepsy with epileptic negative myoclonus[16] and of polymicrogyria with electrical status epilepticus during sleep [17][18]. The advent of progressively higher resolution magnetic resonance imaging prompted an etiological diagnosis in many previously undiagnosed children with epilepsy and it became clear that malformations of cortical development were a major cause, which attracted his research interest. His insights in this area contributed to the delineation of several new brain malformation syndromes including perisylvian[19], parieto-occipital[20] and frontal polymicrogyria[21], describing their diversity and causes[9]. He formed a Neurogenetics team that has provided considerable contributions to the study of the genetic bases of rare and complex developmental and epileptic encephalopathies whose nosology was becoming increasing articulated at the beginning of the third millennium[8].

His recent research activities benefited from his role as Principal Investigator of the large DESIRE Project, investigating the nature and causes of many neurodevelopmental disorders associated with epilepsy. Based on this project, other international collaborations and his clinical and research activities, Renzo Guerrini has authored papers on numerous new epilepsy genes as well as published detailed genotype-phenotypes studies for at least 40 disease-causing genes genes, the most frequent being SCN1A[22], the cause of Dravet syndrome and other genetic epilepsy syndromes, and FLNA[23][24], the most common genetic cause of periventricular nodular heterotopia. Other disease-causing genes from his studies [25], include, among others, ARFGEF2[26], ARX[27], ATP1A2[28], ATP1A3[28], ATP6V1A[29][30], CDKL5[31][32][33], CHRNA2 [34][35], DNM1[36], DMXL2[37], ERMARD[38], EXOC2[39], GNAO1[40], KCNA1[41], MAP1B[42], MTOR[43], PCDH19[44][45][46], PIGP[47], PIK3R2[48], RELN[49], SCN3A[50], SCN8A[51], SLC2A1[52], SLC35A2[53], SLC35A3[54], SPTAN1[55], SYNGAP1[56], and TBC1D24[57][58].

Studies on treatment of paediatric epilepsy

His second area of interest has focused on treatment of epilepsy in children, an area he gave high priority with detailed planning of complementary clinical and research activities. He set up dedicated teams with expertise in both medical and surgical treatment. His work on epilepsy treatment has resulted in his participation in the controlled trials that provided the basis for use of stiripentol[59][60][61], zonisamide [54] [55] and fenfluramine [56] [57] [58] [59] in the treatment of children with severe epilepsies. In Florence, he serves as Chair of Pediatric Neurology where he developed a clinical trial Centre for phase 1 studies and an Epilepsy surgery program that takes advantage of advanced neuroimaging studies performed at an ultra-high field magnetic resonance imaging center he helped establish in Tuscany (https://www.fsm.unipi.it/ricerca-e-innovazione/fondazione-imago7/) [60] [61] [62] [63] [64]. The Pediatric Neuroscience Department he established at Children’s Hospital Meyer is one of the largest and most productive centers for treatment of difficult childhood epilepsy in Italy and Europe, helping many hundreds of children over the years. And this will likely be his greatest legacy.

External links

References

  1. ↑ IRCCS FONDAZIONE STELLA MARIS
  2. ↑ Great Ormond Street Institute of Child Health
  3. ↑ King's College Hospital - NHS Foundation Trust
  4. ↑ Renzo Guerrini - Meyer - Azienda Opedaliero Universitaia
  5. ↑ Renzo Guerrini - Professore Ordinario - Università degli Studi di Firenze
  6. ↑ Fondazione Imago7
  7. ↑ DESIRE Development and Epilepsy
  8. ↑ 8.0 8.1 Guerrini R. (2006), Epilepsy in children. Lancet. 367:499-524.
  9. ↑ 9.0 9.1 Guerrini R, Dobyns WB. (2014), Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 13:710-26.
  10. ↑ 10.0 10.1 Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou AS, Benfenati F. (2023), Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. Physiol Rev. 103:433-513.
  11. ↑ Barkovich AJ, Dobyns WB, Guerrini R. (2015), Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015 May 1;5:a022392.
  12. ↑ Guerrini R, Balestrini S, Wirrell EC, Walker MC. (2021), Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies. Neurology. 97:817-831.
  13. ↑ Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. (2020), International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. 16:618-635.
  14. ↑ Guerrini R, Dravet C, Genton P, Bureau M, Bonanni P, Ferrari AR, Roger J. (1995), Idiopathic photosensitive occipital lobe epilepsy. Epilepsia. 36:883-91.
  15. ↑ Porciatti V, Bonanni P, Fiorentini A, Guerrini R. (2000), Lack of cortical contrast gain control in human photosensitive epilepsy. Nat Neurosci. 3:259-63.
  16. ↑ Guerrini R, Dravet C, Genton P, Bureau M, Roger J, Rubboli G, Tassinari CA. (1993). Epileptic negative myoclonus. Neurology.. 43:1078-83.
  17. ↑ Guerrini R, Genton P, Bureau M, Parmeggiani A, Salas-Puig X, Santucci M, Bonanni P, Ambrosetto G, Dravet C. (1988). Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus. Neurology. 51:504-12.
  18. ↑ Bartolini E, Falchi M, Zellini F, Parrini E, Grisotto L, Cosottini M, Posar A, Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas-Puig J, Barba C, Guerrini R. (2016) The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. Neurology. 86:1250-9.
  19. ↑ Kuzniecky R, Andermann F, Guerrini R. (1993), Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet. 6;341(8845):608-12.
  20. ↑ Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, Jones-Gotman M, Canapicchi R, Cross H, Fish D, Bonanni P, Jambaqué I, Andermann F (1997). Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol. 1997;41:65-73.
  21. ↑ Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB (2000). Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 54:909-13.
  22. ↑ Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, Pucatti D, Ferrari A, Sicca F, Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R. (2017), Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology. 14;88:1037-1044
  23. ↑ Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. (2006). Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 129:1892-906.
  24. ↑ Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E (2004). Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 63:51-6.
  25. ↑ Entry Search - Guerrini - OMIM
  26. ↑ Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. (2004). Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 36:69-76.
  27. ↑ Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. (2007). Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 31;69:427-33.
  28. ↑ 28.0 28.1 Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R. (2021). ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain. 144:1435-1450.
  29. ↑ Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. (2018). De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018;141:1703-1718.
  30. ↑ Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio A. (2022). Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022;145:2687-2703.
  31. ↑ Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari AR, Marini C, Guerrini R (2011). CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol. 53:354-60.
  32. ↑ Mei D, Darra F, Barba C, Marini C, Fontana E, Chiti L, Parrini E, Dalla Bernardina B, Guerrini R. (2014) .Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. Epilepsia. 55:1748-53.
  33. ↑ Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R. (2010). Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia. 5:647-54.
  34. ↑ Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G. (2006). Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet. 2006. 79:342-50.
  35. ↑ Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R. (2015). Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. Neurology. 84:1520-8.
  36. ↑ EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014;95:360-70.
  37. ↑ Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. (2019). Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain. 142:3876-3891.
  38. ↑ Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. (2013). Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 136:3378-94.
  39. ↑ Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J.J (2020). Mutations in the exocyst component EXOC2 cause severe defects in human brain development. J Exp Med. 5;217:e20192040.
  40. ↑ Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. (2017). GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurol Genet. 3:e143.
  41. ↑ Miceli F, Guerrini R, Nappi M, Soldovieri MV, Cellini E, Gurnett CA, Parmeggiani L, Mei D, Taglialatela M. (2022). Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants. Epilepsia. 63:e7-e14.
  42. ↑ Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. (2018). De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018; 14:e1007281.
  43. ↑ Guerrini R, Cavallin M, Pippucci T, Rosati A, Bisulli F, Dimartino P, Barba C, Garbelli R, Buccoliero AM, Tassi L, Conti V. (2020). Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?. Neurol Genet. 7:e540.
  44. ↑ Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R. (2010). Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. 75:646-53.
  45. ↑ Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Dalla Bernardina B, Guerrini R. (2012). Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. Epilepsia. 53:2111-9.
  46. ↑ Lenge M, Marini C, Canale E, Napolitano A, De Masi S, Trivisano M, Mei D, Longo D, Rossi Espagnet MC, Lucenteforte E; PCDH19 Clinical Study Group, Barba C, Specchio N, Guerrini R. (2020). Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy. Cereb Cortex. 30:6039-6050
  47. ↑ Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, Guerrini R. (2020). Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. Neurol Genet. 2020;6:e387.
  48. ↑ Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. (2015). Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 14:1182-95.
  49. ↑ Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. (2022). Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain 145:3274-3287.
  50. ↑ Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM (2020). SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation. Ann Neurol. 88:348-362.
  51. ↑ Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS. (2018). The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology. 91:e1112-e1124.
  52. ↑ Mullen SA, Marini C, Suls A, Mei D, Della Giustina E, Buti D, Arsov T, Damiano J, Lawrence K, De Jonghe P, Berkovic SF, Scheffer IE, Guerrini R. (2011). Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol. 68:1152-5.
  53. ↑ Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Benova B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R. (2022). Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology. Oct 28:10.1212/WNL.0000000000201471.
  54. ↑ Marini C, Hardies K, Pisano T, May P, Weckhuysen S, Cellini E, Suls A, Mei D, Balling R, Jonghe PD, Helbig I, Garozzo D; EuroEPINOMICS consortium AR working group, Guerrini R. (2017). Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. Am J Med Genet A. 173:1119-1123.
  55. ↑ Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. (2017). Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 140:2322-2336.
  56. ↑ Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. (2019). SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. Neurology. 92:e96-e107.
  57. ↑ Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. (1999). Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol. 45:344-52.
  58. ↑ Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R. (2019). TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. Brain. 142: 2319-2335.
  59. ↑ Guerrini R., Ferrari A.R., Dalla Bernardina B. et al. Comparative study of the efficacy of stiripentol used in combination in severe myoclonic epilepsy in infancy (SMEI). A double-blind, multicenter, placebo-controlled phase III study. STIRIPENTOL115-STICLO. September 2004 & Internal document Laboratoires BIOCODEX.
  60. ↑ Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G. (2008). Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. Epilepsia. 49:343-8.
  61. ↑ Rosati A, Boncristiano A, Doccini V, Pugi A, Pisano T, Lenge M, De Masi S, Guerrini R. (2019). Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study. Epilepsia. 2019; 60:2255-2262.
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