Pasquale Striano

Pasquale Striano

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Pasquale Striano

Publications by authors named "Pasquale Striano"

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Clinico-diagnostic features of neuralgic amyotrophy in childhood.

Neurol Sci 2020 Jul 5;41(7):1735-1740. Epub 2020 Mar 5.

Paediatric Neurology and Muscular Diseases Unit, "G. Gaslini" Institute, Genoa, Italy.

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http://dx.doi.org/10.1007/s10072-020-04314-8DOI Listing
July 2020

A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.

Seizure 2020 Jul 11;79:53-55. Epub 2020 May 11.

Pediatric Neurology and Muscular Diseases Unit, Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, "G. Gaslini" Institute, University of Genoa, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2020.05.001DOI Listing
July 2020

Cannabidiol efficacy and clobazam status: A systematic review and meta-analysis.

Epilepsia 2020 Jun 26;61(6):1090-1098. Epub 2020 May 26.

Department of Neuroscience, Biomedicine, and Movement Science, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1111/epi.16546DOI Listing
June 2020

The genetics of self-limited focal epilepsies.

Authors:
Pasquale Striano

Eur J Paediatr Neurol 2020 Jun 30. Epub 2020 Jun 30.

Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.06.014DOI Listing
June 2020

The febrile search for CNV's in epilepsy families.

Eur J Paediatr Neurol 2020 Jun 29. Epub 2020 Jun 29.

Royal Hospital for Sick Children, Glasgow, UK.

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http://dx.doi.org/10.1016/j.ejpn.2020.06.013DOI Listing
June 2020

A pathway to precision therapy even for mitochondrial myoclonic epilepsy.

Seizure 2020 May 15;78:170-171. Epub 2019 Nov 15.

Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.11.001DOI Listing
May 2020

A reappraisal of the value of video-EEG recording in the emergency department.

Expert Rev Neurother 2020 May 4;20(5):459-475. Epub 2020 Apr 4.

Chair of Pediatrics, Child Neurology, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University, c/o Sant'Andrea Hospital, Rome, Italy.

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http://dx.doi.org/10.1080/14737175.2020.1747435DOI Listing
May 2020

The ENIGMA-Epilepsy working group: Mapping disease from large data sets.

Hum Brain Mapp 2020 May 29. Epub 2020 May 29.

Department of Psychiatry, University of California San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1002/hbm.25037DOI Listing
May 2020

Distal motor neuropathy associated with novel EMILIN1 mutation.

Neurobiol Dis 2020 04 21;137:104757. Epub 2020 Jan 21.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.104757DOI Listing
April 2020

From Genetic Testing to Precision Medicine in Epilepsy.

Neurotherapeutics 2020 Apr;17(2):609-615

Department of Pediatrics Division of Neurology, University of Texas Southwestern, Dallas, Texas, USA.

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http://dx.doi.org/10.1007/s13311-020-00835-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283411PMC
April 2020

Emerging treatments for progressive myoclonus epilepsies.

Expert Rev Neurother 2020 Apr 17;20(4):341-350. Epub 2020 Mar 17.

Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G.Gaslini' Institute, Genoa, Italy.

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http://dx.doi.org/10.1080/14737175.2020.1741350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288349PMC
April 2020

Adjunctive Cannabidiol in Patients with Dravet Syndrome: A Systematic Review and Meta-Analysis of Efficacy and Safety.

CNS Drugs 2020 Mar;34(3):229-241

Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Via Conca71, 60020, Ancona, Italy.

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http://dx.doi.org/10.1007/s40263-020-00708-6DOI Listing
March 2020

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.

Brain 2020 02;143(2):441-451

Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto G. Gaslini, Via Gerolamo Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1093/brain/awz391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7009479PMC
February 2020

Adjunctive Rufinamide in Children with Lennox-Gastaut Syndrome: A Literature Review.

Neuropsychiatr Dis Treat 2020 5;16:369-379. Epub 2020 Feb 5.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.2147/NDT.S185774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008198PMC
February 2020

Seizures cluster around genetics.

Authors:
Pasquale Striano

Eur J Paediatr Neurol 2020 Jan 10;24:9-10. Epub 2020 Jan 10.

Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.01.011DOI Listing
January 2020

A reappraisal of atypical absence seizures in children and adults: therapeutic implications.

Expert Opin Pharmacother 2019 Dec 24;20(17):2115-2120. Epub 2019 Aug 24.

Neurology Unit, S. Anna Hospital, Como, Italy.

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http://dx.doi.org/10.1080/14656566.2019.1656716DOI Listing
December 2019

Can we 'seize' the gut microbiota to treat epilepsy?

Neurosci Biobehav Rev 2019 12 15;107:750-764. Epub 2019 Oct 15.

Science of Health Department, School of Medicine, University Magna Graecia, Catanzaro, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neubiorev.2019.10.002DOI Listing
December 2019

Gut microbiota and psychogenic non-epileptic seizures: i can feel it in the belly.

Expert Rev Neurother 2019 12 25;19(12):1165. Epub 2019 Oct 25.

Paediatric Neurology and Muscular Diseases Unit, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1080/14737175.2019.1684901DOI Listing
December 2019

The Confirming Evidence for Ictal Epileptic Headache.

Headache 2019 11;59(10):1832-1833

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1111/head.13678DOI Listing
November 2019

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Seizure 2019 Oct 23;71:247-257. Epub 2019 Aug 23.

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'G. Gaslini', Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2019.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288863PMC
October 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Moving beyond sodium valproate: choosing the right anti-epileptic drug in children.

Expert Opin Pharmacother 2019 Aug 17;20(12):1449-1456. Epub 2019 May 17.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Opthalmology, Genetics, Maternal and Child's Health, University of Genoa , Genoa , Italy.

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http://dx.doi.org/10.1080/14656566.2019.1617850DOI Listing
August 2019

Epidemiology and familial clustering of pediatric epilepsy in the geographic isolate of Ischia.

Epilepsy Res 2019 08 4;154:86-89. Epub 2019 May 4.

Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Dip. Neuroscienze, Lab. Malattie Neurologiche, Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.05.004DOI Listing
August 2019

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Neuropediatrics 2019 08 28;50(4):268-270. Epub 2019 May 28.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0039-1688954DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Eur J Paediatr Neurol 2019 Jul 24;23(4):657-661. Epub 2019 May 24.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2019.05.011DOI Listing
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Ictal Epileptic Headache: When Terminology Is Not a Moot Question.

Front Neurol 2019 23;10:785. Epub 2019 Jul 23.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy.

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http://dx.doi.org/10.3389/fneur.2019.00785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664028PMC
July 2019

LC-MS/MS-Based Quantification of 9 Antiepileptic Drugs From a Dried Sample Spot Device.

Ther Drug Monit 2019 06;41(3):331-339

Laboratory of Neurological Biochemistry and Neuropharmacology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.

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http://dx.doi.org/10.1097/FTD.0000000000000600DOI Listing
June 2019

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

Epileptic Disord 2019 Jun;21(3):271-277

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini", Genova.

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http://dx.doi.org/10.1684/epd.2019.1071DOI Listing
June 2019

Familial adult myoclonic epilepsy: A new expansion repeats disorder.

Seizure 2019 Apr 19;67:73-77. Epub 2019 Mar 19.

Pediatric Neurology and Muscular Diseases Unit, DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, IRCCS "G. Gaslini" Institute, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.03.009DOI Listing
April 2019

The impact of perampanel and targeting AMPA transmission on anti-seizure drug discovery.

Expert Opin Drug Discov 2019 03 11;14(3):195-197. Epub 2019 Jan 11.

b Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health , University of Genoa, "G. Gaslini" Institute , Genova , Italy.

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http://dx.doi.org/10.1080/17460441.2019.1566318DOI Listing
March 2019

An observational study of fixed-dose Tanacetum parthenium nutraceutical preparation for prophylaxis of pediatric headache.

Ital J Pediatr 2019 Mar 12;45(1):36. Epub 2019 Mar 12.

Child Neurology, Pediatric Headache & Sleep Disorders Centre, Chair of Pediatrics, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University, Via Di Grottarossa, 1035-1039, 00189, Rome, Italy.

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http://dx.doi.org/10.1186/s13052-019-0624-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419324PMC
March 2019

GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.

Eur J Paediatr Neurol 2019 03;23(2):233-234

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798193006
Publisher Site
http://dx.doi.org/10.1016/j.ejpn.2019.02.010DOI Listing
March 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

GABA strikes down again in epilepsy.

Ann Transl Med 2019 Feb;7(3):57

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy.

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http://atm.amegroups.com/article/view/23300/22570
Publisher Site
http://dx.doi.org/10.21037/atm.2018.12.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389577PMC
February 2019

A synaptic protein defect associated with reflex seizure disorder.

Neurology 2019 01 12;92(2):63-64. Epub 2018 Dec 12.

From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006720DOI Listing
January 2019

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Acta Neurol Scand 2018 Dec 14;138(6):523-530. Epub 2018 Aug 14.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy.

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http://dx.doi.org/10.1111/ane.13006DOI Listing
December 2018

Emerging drugs for the treatment of Dravet syndrome.

Expert Opin Emerg Drugs 2018 12 4;23(4):261-269. Epub 2018 Dec 4.

d Neurology Unit , S. Anna Hospital , Como , Italy.

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https://www.tandfonline.com/doi/full/10.1080/14728214.2018.1
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http://dx.doi.org/10.1080/14728214.2018.1552937DOI Listing
December 2018

The growing landscape of ictal epileptic headache.

Cephalalgia 2018 11 23;38(13):1988-1989. Epub 2018 Mar 23.

4 NESMOS Department, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1177/0333102418768077DOI Listing
November 2018

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Neurology 2018 11 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239PMC
November 2018

Pharmacokinetics and Drug Interaction of Antiepileptic Drugs in Children and Adolescents.

Paediatr Drugs 2018 Oct;20(5):429-453

Department of Pediatrics, University of L'Aquila, Via Vetoio, 1. Coppito, L'Aquila, Italy.

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http://dx.doi.org/10.1007/s40272-018-0302-4DOI Listing
October 2018

"Ictal epileptic headache" and the revised International Headache Classification (ICHD-3) published in Cephalalgia 2018, vol. 38(1) 1-211: Not just a matter of definition!

Epilepsy Behav 2018 10 14;87:243-245. Epub 2018 Aug 14.

University Medical Center Utrecht, Utrecht, Netherlands; NESMOS Department, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2018.07.018DOI Listing
October 2018

Multiorgan mitochondrial dysfunction is not a main feature of MFN2 mutations (Reply to: CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder).

Eur J Paediatr Neurol 2018 09 30;22(5):892-893. Epub 2018 Apr 30.

Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.04.011DOI Listing
September 2018

Should children over 12 years have an EEG after a single unprovoked epileptic seizure?

Minerva Pediatr 2018 08;70(4):409-411

Department of Paediatric Neurology, Oxford Children's Hospital, Oxford, UK.

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http://dx.doi.org/10.23736/S0026-4946.17.04986-6DOI Listing
August 2018

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".

Neurology 2018 07 15;91(3):137-139. Epub 2018 Jun 15.

From the Hospital for Sick Children (A.V., A.T., S.A., B.M.), Toronto; University of Toronto (A.V.),Canada; Polyclinic Hospital San Martino (A.M.), Genova; University of Genova (N.K., P.S.); G. Gaslini Institute (P.S.), Genova; and University of Texas Southwestern (B.M.), Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000005821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059029PMC
July 2018

How to select the appropriate pharmacotherapy for absence seizures in children.

Expert Opin Pharmacother 2018 07 20;19(10):1045-1047. Epub 2018 Jun 20.

a Department of Pediatrics, San Salvatore Hospital , University of L'Aquila , L'Aquila , Italy.

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http://dx.doi.org/10.1080/14656566.2018.1484902DOI Listing
July 2018

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

J Neurol 2018 Jun 17;265(6):1419-1425. Epub 2018 Apr 17.

Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00415-018-8826-7DOI Listing
June 2018

The genetic basis of juvenile myoclonic epilepsy.

Lancet Neurol 2018 06;17(6):493-495

Consiglio Nazionale delle Ricerche Neuroscience Institute and Department of Biomedical Sciences, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1016/S1474-4422(18)30173-XDOI Listing
June 2018

Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy.

Neurol Genet 2018 Jun 11;4(3):e241. Epub 2018 Jun 11.

Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova; and CNR-Neuroscience Institute and Department of Biomedical Sciences (C.N.), University of Padua, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999347PMC
June 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Eur J Paediatr Neurol 2018 May 5;22(3):563-567. Epub 2018 Jan 5.

Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.020DOI Listing
May 2018

Intravenous carbamazepine for the treatment of epilepsy.

Expert Opin Pharmacother 2018 May 12;19(7):743-747. Epub 2018 Apr 12.

e Neurology Unit , S. Anna Hospital , Como , Italy.

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http://dx.doi.org/10.1080/14656566.2018.1462338DOI Listing
May 2018

Clinical reappraisal of the influence of drug-transporter polymorphisms in epilepsy.

Expert Opin Drug Metab Toxicol 2018 May 28;14(5):505-512. Epub 2018 May 28.

a Child Neurology, Chair of Pediatrics, NESMOS Department, Faculty of Medicine and Psychology , Sapienza University, c/o Sant'Andrea Hospital , Rome , Italy.

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http://dx.doi.org/10.1080/17425255.2018.1473377DOI Listing
May 2018

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Seizure 2018 Apr 2;57:63-65. Epub 2018 Mar 2.

Laboratory of Neurogenetics and Neuroscience, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2018.02.011DOI Listing
April 2018

Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.

Ann Neurol 2018 03 13;83(3):483-493. Epub 2018 Mar 13.

CNR-Neuroscience Institute, Section of Padua, Padova, Italy.

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http://dx.doi.org/10.1002/ana.25167DOI Listing
March 2018

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Brain 2018 02;141(2):391-408

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.

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https://academic.oup.com/brain/article/141/2/391/4818311
Publisher Site
http://dx.doi.org/10.1093/brain/awx341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837616PMC
February 2018