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Articles published in Neuropediatrics

Retrieve available abstracts of 59 articles:
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Single Articles


    April 2024
  1. SARACINO A, Totaro M, Politano D, DE Giorgis V, et al
    PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
    Neuropediatrics. 2024;55:129-134.
    PubMed     Abstract available


    February 2024
  2. GEBERT J, Brunet T, Wagner M, Rath J, et al
    A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism.
    Neuropediatrics. 2024 Feb 12. doi: 10.1055/s-0044-1779274.
    PubMed     Abstract available


  3. MCGINLEY C, Teti S, Hofmann K, Schreiber JM, et al
    Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis.
    Neuropediatrics. 2024;55:1-8.
    PubMed     Abstract available


    January 2024
  4. GEBERT J, Brunet T, Wagner M, Rath J, et al
    A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism.
    Neuropediatrics. 2024 Jan 29. doi: 10.1055/a-2256-0722.
    PubMed     Abstract available


  5. FRANQUELIM C, Romana A, Rachao A, Martins JS, et al
    Early-onset dystonia and visual impairment preceding epileptic encephalopathy associated with PIGA gene mutation.
    Neuropediatrics. 2024 Jan 5. doi: 10.1055/a-2239-1985.
    PubMed     Abstract available


  6. FEARNS N, Wagner M, Borggrafe I, Kunz M, et al
    Good Outcome of Resective Epilepsy Surgery in a One-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation.
    Neuropediatrics. 2024 Jan 2. doi: 10.1055/a-2236-7066.
    PubMed     Abstract available


    December 2023
  7. RANA M, Steenari M, Shrey D
    Hyperventilation and Seizures: Not a New Sense: A Literature Review.
    Neuropediatrics. 2023;54:359-364.
    PubMed     Abstract available


  8. VAN GEMERT LA, van Alfen N, van Gaal L, Wortmann S, et al
    Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome.
    Neuropediatrics. 2023;54:365-370.
    PubMed     Abstract available


  9. NAJERA-CHAVEZ BC, Seeber L, Goldhahn K, Panzer A, et al
    Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report.
    Neuropediatrics. 2023;54:417-421.
    PubMed     Abstract available


  10. ALEXANDER N, Cip J, Muller E, Lengnick-Lampadius K, et al
    Gait is not Affected by Hemispherotomy-Case Report from Two Children.
    Neuropediatrics. 2023;54:397-401.
    PubMed     Abstract available


    November 2023
  11. KIM JS, Woo H, Lee JH, Kim WS, et al
    Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom.
    Neuropediatrics. 2023 Nov 23. doi: 10.1055/a-2217-0336.
    PubMed     Abstract available


    October 2023
  12. VILAN A, Grangeia A, Ribeiro JM, Cilio MR, et al
    Distinctive amplitude-integrated EEG ictal pattern and targeted therapy with carbamazepine in KCNQ2 and KCNQ3 neonatal epilepsy: a case series.
    Neuropediatrics. 2023 Oct 12. doi: 10.1055/a-2190-9521.
    PubMed     Abstract available


  13. GIACOMINI T, Cordani R, Bagnasco I, Vercellino F, et al
    Electroclinical Features of Epilepsy in Kleefstra's Syndrome.
    Neuropediatrics. 2023 Oct 6. doi: 10.1055/s-0043-1775977.
    PubMed     Abstract available


  14. MORENO-BRAUER D, Hausler M, Kluger G, Hensler J, et al
    Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome.
    Neuropediatrics. 2023 Oct 5. doi: 10.1055/s-0043-1774318.
    PubMed     Abstract available


  15. BORGGRAEFE I, Wagner M
    Precision Therapy in KCNQ2-Related Epilepsy.
    Neuropediatrics. 2023;54:295-296.
    PubMed    


  16. TANOUS O, Haj-Yahya KT, Ershead A, Lerner L, et al
    Communal Poverty Is a Significant Risk Factor for Neonatal Seizures.
    Neuropediatrics. 2023;54:322-327.
    PubMed     Abstract available


  17. HORIGUCHI A, Koichihara R, Kikuchi K, Nonoyama H, et al
    Efficacy of Antiseizure Medications in Wolf-Hirschhorn Syndrome.
    Neuropediatrics. 2023;54:339-343.
    PubMed     Abstract available


    August 2023
  18. BOGUT L, Andersen K, Grejsen J, Gimenez-Rico MJM, et al
    Decreased Cognitive Function in Danish Children with Epilepsy.
    Neuropediatrics. 2023 Aug 22. doi: 10.1055/s-0043-1772191.
    PubMed     Abstract available


    June 2023
  19. SAINI L, Mukherjee S, Gunasekaran PK, Malhi P, et al
    Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms.
    Neuropediatrics. 2023 Jun 28. doi: 10.1055/s-0043-1770937.
    PubMed     Abstract available


  20. FALSAPERLA R, Sortino V, Collotta AD, Privitera GF, et al
    Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects-A Single Center's Initial Experience.
    Neuropediatrics. 2023 Jun 15. doi: 10.1055/s-0043-1769505.
    PubMed     Abstract available


  21. DANGOULOFF-ROS V, Jansen JFA, de Jong J, Postma AA, et al
    Abnormal Spontaneous Blood Oxygenation Level Dependent Fluctuations in Children with Focal Cortical Dysplasias: Initial Findings in Surgically Confirmed Cases.
    Neuropediatrics. 2023;54:188-196.
    PubMed     Abstract available


  22. HADZSIEV K, Hegyi M, Fogarasi A, Bodo-Baltavari T, et al
    Observation of a possible successful treatment of DEPDC5-related epilepsy with mTOR inhibitor.
    Neuropediatrics. 2023 Jun 1. doi: 10.1055/a-2104-1614.
    PubMed     Abstract available


    May 2023
  23. GUZIN Y, Yilmaz U, Devrim F, Dincel N, et al
    Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors.
    Neuropediatrics. 2023 May 31. doi: 10.1055/s-0043-1768987.
    PubMed     Abstract available


  24. MANOKARAN RK, Patel J, Sharma S, Ochi A, et al
    Myoclonic status epilepticus in TBC1D24-related DEE.
    Neuropediatrics. 2023 May 10. doi: 10.1055/a-2090-5922.
    PubMed    


    April 2023
  25. BARTOLINI E, Della Vecchia S, Biagioni T, Montanaro D, et al
    Clinical course may be independent from neuroimaging in DEPDC-5 related epilepsy.
    Neuropediatrics. 2023 Apr 1. doi: 10.1055/a-2067-5096.
    PubMed     Abstract available


    March 2023
  26. FALSAPERLA R, Criscione R, Cimino C, Pisani F, et al
    KCNQ2 - Related Epilepsy: geno - phenotype relationship with tailorized anti seizures medication (ASM): Systematic review.
    Neuropediatrics. 2023 Mar 22. doi: 10.1055/a-2060-4576.
    PubMed     Abstract available


  27. HOYER S, Makridis KL, Atalay DA, Thomale UW, et al
    Family Burden and Epilepsy Surgery in Children with Drug-Resistant Epilepsy.
    Neuropediatrics. 2023 Mar 15. doi: 10.1055/s-0043-1764215.
    PubMed     Abstract available


    January 2023
  28. LEUSCHNER UV, Kleinle S, Holzinger A, Neef J, et al
    Novel SYN1 variant in two brothers with focal epilepsy and their prompt response to valproate.
    Neuropediatrics. 2023 Jan 24. doi: 10.1055/a-2019-0136.
    PubMed     Abstract available


    December 2022
  29. KALSER J, Giuliano F, Peralta M, Plecko B, et al
    Infantile spasms without hypsarrhythmia and paroxysmal eye-head movements in an infant with a pyridoxine dependent epilepsy due to PLPBP/PLPHP deficiency.
    Neuropediatrics. 2022 Dec 28. doi: 10.1055/a-2003-9886.
    PubMed     Abstract available


  30. KARAOGLU P, Tekin HG
    Clinical and Electrophysiological Features Predicting Response to Antiseizure Medications in Juvenile Absence Epilepsy.
    Neuropediatrics. 2022 Dec 23. doi: 10.1055/s-0042-1757709.
    PubMed     Abstract available


  31. ERRIDGE S, Holvey C, Coomber R, Hoare J, et al
    Clinical Outcome Data of Children Treated with Cannabis Based Medicinal Products for Treatment Resistant Epilepsy - Analysis from the UK Medical Cannabis Registry.
    Neuropediatrics. 2022 Dec 20. doi: 10.1055/a-2002-2119.
    PubMed     Abstract available


  32. RAMANTANI G, Bolsterli BK, Alber M, Klepper J, et al
    Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics.
    Neuropediatrics. 2022;53:389-401.
    PubMed     Abstract available


  33. ABULA Y, Abulimiti A, Liu Z, Yimiti Y, et al
    The Role of the Three-Dimensional Edge-Enhancing Gradient Echo Sequence at 3T MRI in the Detection of Focal Cortical Dysplasia: A Technical Case Report and Literature Review.
    Neuropediatrics. 2022;53:436-439.
    PubMed     Abstract available


    September 2022
  34. SHEN J, Jiang T, Gao F, Jiang K, et al
    Efficacy, retention rate and influencing factors of ketogenic diet therapy in children with refractory epilepsy: a retrospective study.
    Neuropediatrics. 2022 Sep 13. doi: 10.1055/a-1942-2447.
    PubMed     Abstract available


    August 2022
  35. NATSUME T, Inaba Y, Osawa Y, Fukuyama T, et al
    High Incidence of Hippocampal Abnormalities in Pediatric Patients with Congenital Cytomegalovirus Infection.
    Neuropediatrics. 2022;53:239-245.
    PubMed     Abstract available


  36. KAWAI M, Abe Y, Yumoto M, Kubota M, et al
    Aphasia and a Dual-Stream Language Model in a 4-Year-Old Female with Landau-Kleffner Syndrome.
    Neuropediatrics. 2022;53:295-298.
    PubMed     Abstract available


    April 2022
  37. HERBULOT L, Bost C, Viguier A, Faure-Marie N, et al
    Stiff Person Syndrome and Encephalitis with GAD Antibodies with Severe Anterograde Amnesia in an Adolescent: A Case Study and Literature Review.
    Neuropediatrics. 2022;53:136-139.
    PubMed     Abstract available


  38. ANURAT K, Khongkhatithum C, Tim-Aroon T, Limwongse C, et al
    Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome.
    Neuropediatrics. 2022;53:129-132.
    PubMed     Abstract available


    February 2022
  39. CORDANI R, Pisciotta L, Mancardi MM, Stagnaro M, et al
    Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
    Neuropediatrics. 2022;53:69-74.
    PubMed     Abstract available


    January 2022
  40. PREUSSE M, Paraschaki G, Lutz S
    A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report.
    Neuropediatrics. 2022 Jan 28. doi: 10.1055/s-0042-1742305.
    PubMed     Abstract available


  41. SHARMA Y, Saini AG, Kaur R, Bhatia V, et al
    Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
    Neuropediatrics. 2022 Jan 28. doi: 10.1055/s-0042-1742322.
    PubMed     Abstract available


    December 2021
  42. MIERLO PV, Braakman H, Vandenbussche N, Schelhaas HJ, et al
    Epilepsy and Sleep in the ATR-X Syndrome.
    Neuropediatrics. 2021 Dec 21. doi: 10.1055/s-0041-1740551.
    PubMed     Abstract available


  43. SOURBRON J, Jansen K, Mei D, Hammer TB, et al
    SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.
    Neuropediatrics. 2021 Dec 6. doi: 10.1055/s-0041-1739133.
    PubMed     Abstract available


  44. AL-SAADY ML, Kaiser CS, Wakasuqui F, Korenke GC, et al
    Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
    Neuropediatrics. 2021;52:489-494.
    PubMed     Abstract available


    November 2021
  45. CHIDAMBARAM S, Manokaran RK
    Favorable Response to "Memantine" in a Child with GRIN2B Epileptic Encephalopathy.
    Neuropediatrics. 2021 Nov 29. doi: 10.1055/s-0041-1739130.
    PubMed     Abstract available


    October 2021
  46. LARSH T, Parikh S
    Crossed Cerebellar Diaschisis in EEG Negative Epilepsia Partialis Continua.
    Neuropediatrics. 2021 Oct 21. doi: 10.1055/s-0041-1736180.
    PubMed    


  47. MROCZEK M, Zafeiriou D, Gurgel-Gianetti J, Vilela Morais de Azevedo B, et al
    Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
    Neuropediatrics. 2021;52:390-393.
    PubMed     Abstract available


    August 2021
  48. MADAAN P, Kaur A, Saini L, Paria P, et al
    PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases.
    Neuropediatrics. 2021 Aug 26. doi: 10.1055/s-0041-1733984.
    PubMed     Abstract available


  49. PAVONE P, Sullo F, Falsaperla R, Greco F, et al
    Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment.
    Neuropediatrics. 2021;52:333-336.
    PubMed     Abstract available


    July 2021
  50. STERN T, Kornreich L, Goldberg H
    Yield of Brain Magnetic Resonance Imaging in Epilepsy Diagnosis from 1998 to 2020: A Large Retrospective Cohort Study.
    Neuropediatrics. 2021 Jul 29. doi: 10.1055/s-0041-1732325.
    PubMed     Abstract available


  51. VON STULPNAGEL C, Kutschker S, Sperl W, Berweck S, et al
    Childhood Stroke: Long-Term Outcomes and Health-Related Quality of Life with a Special Focus on the Development of Epilepsy.
    Neuropediatrics. 2021 Jul 12. doi: 10.1055/s-0041-1731805.
    PubMed     Abstract available


    June 2021
  52. SAVAGE MC, Kielian A, Elitt C, Peters JM, et al
    Startle Epilepsy Triggered By Maternal Cough.
    Neuropediatrics. 2021 Jun 30. doi: 10.1055/s-0041-1731008.
    PubMed    


    April 2021
  53. SIDDIQUI A, McGregor AL, Wheless JW, Klimo P, et al
    Utility of Epilepsy Surgery in Survivors of Childhood Cancer.
    Neuropediatrics. 2021 Apr 14. doi: 10.1055/s-0041-1728653.
    PubMed     Abstract available


  54. SAMANTA D
    Recent Advances in the Diagnosis and Treatment of Neonatal Seizures.
    Neuropediatrics. 2021;52:73-83.
    PubMed     Abstract available


  55. TANOUS O, Watad M, Felszer-Fisch C, Peniakov M, et al
    Risk Factors for Mortality among Newborns with Neonatal Seizures.
    Neuropediatrics. 2021;52:84-91.
    PubMed     Abstract available


  56. ALGAHTANI H, Shirah B, Daghistani M, Al-Qahtani MH, et al
    A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures.
    Neuropediatrics. 2021;52:150-152.
    PubMed    


    February 2021
  57. DEY PK, Ghosh A
    Atypical Presentation of Fulminating Subacute Sclerosing Panencephalitis: A Case Series.
    Neuropediatrics. 2021;52:52-55.
    PubMed     Abstract available


  58. CESKA K, Cesky L, Oslejskova H, Aulicka S, et al
    The Direct Costs of Dravet's Syndrome before and after Diagnosis Assessment.
    Neuropediatrics. 2021;52:6-11.
    PubMed     Abstract available


    October 2020
  59. TAKAHASI EHM, Alves MTSSB, Ribeiro MRC, Souza VFP, et al
    Gross Motor Function in Children with Congenital Zika Syndrome.
    Neuropediatrics. 2020 Oct 27. doi: 10.1055/s-0040-1718919.
    PubMed     Abstract available


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