DOI: 10.1055/s-00000041

Neuropediatrics

Ausgabe 02 · Volume 52 · April 2021 DOI: 10.1055/s-011-50570

Editorial

  • 069
    Plecko, Barbara:

    TPK1 Deficiency—A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern

  • 071
    Neubauer, Bernd A.:

    Epilepsy in Neuropediatrics

    • Review Article

  • 073
    Samanta, Debopam:

    Recent Advances in the Diagnosis and Treatment of Neonatal Seizures

    • Original Article

  • 084
    Tanous, Osama; Watad, Mohamad; Felszer-Fisch, Clari; Peniakov, Marina; Miron, Dan; Salim, Raed:

    Risk Factors for Mortality among Newborns with Neonatal Seizures

    Supplementary Material (PDF)
  • 092
    Willimsky, Eva-Katharina; Munzig, Anna; Mayer, Karin; Biskup, Saskia; Abicht, Angela; Hoertnagel, Konstanze; Voss, Hubertus von; Klein, Hanns-Georg; Rost, Imma; Larsen, Line H.G.; Dahl, Hanns Atli; Hoelz, Hannes; Stuelpnagel, Celina von; Borggraefe, Ingo:

    Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters

  • 098
    Sharawat, Indar Kumar; Panda, Prateek Kumar; Dawman, Lesa:

    Clinical Characteristics and Genotype–Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature

    Supplementary Material (PDF)
  • 105
    Valluzzi, Adelaide; Donatiello, Salvatore; Gallo, Graziana; Cellini, Monica; Maiorana, Antonino; Spina, Vincenzo; Pavesi, Giacomo:

    Osteoid Osteoma of the Atlas in a Boy: Clinical and Imaging Features–A Case Report and Review of the Literature

  • 109
    Hofmeister, Benedikt; von Stülpnagel, Celina; Betzler, Cornelia; Mari, Francesca; Renieri, Alessandra; Baldassarri, Margherita; Haberlandt, Edda; Jansen, Katrien; Schilling, Stefan; Weber, Peter; Ahlbory, Katja; Tang, Shan; Berweck, Steffen; Kluger, Gerhard:

    Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects

    • Short Communication

  • 123
    Eckenweiler, Matthias; Mayr, Johannes A.; Grünert, Sarah; Abicht, Angela; Korinthenberg, Rudolf:

    Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

  • 126
    Rüsch, Christina T.; Wortmann, Saskia B.; Kovacs-Nagy, Reka; Grehten, Patrice; Häberle, Johannes; Latal, Beatrice; Stettner, Georg M.:

    Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder

  • 133
    Baba, Shimpei; Okanishi, Tohru; Ohsugi, Koichi; Suzumura, Rika; Niimi, Keiko; Shimizu, Sayuri; Sakihama, Hiroshi; Itamura, Shinji; Hirano, Keiko; Nishimura, Mitsuyo; Fujimoto, Ayataka; Enoki, Hideo:

    Possible Role of High-Dose Barbiturates and Early Administration of Parenteral Ketogenic Diet for Reducing Development of Chronic Epilepsy in Febrile Infection-Related Epilepsy Syndrome: A Case Report

    Supplementary Material (PDF)
  • 138
    Orrico, Alfredo; Galli, Lucia; Rossi, Maja; Cortesi, Ambra; Mazzi, Marta; Caterino, Ettore:

    The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family

    Supplementary Material (PDF)
  • 142
    Bossi, Grazia; Bruno, Raffaele; Novati, Stefano; Maserati, Roberta; Mussati, Georgia; Gorone, Mariasole Prevedoni; Nepita, Edoardo Vecchio; Regalbuto, Corrado; Gola, Gioia; Simoncelli, Anna Maria; Bruno, Antonella; Musso, Paola; Clerici, Edoardo; Marseglia, Gian Luigi:

    Cerebral Toxocariasis as a Cause of Epilepsy: A Pediatric Case

  • 146
    Mastrangelo, Mario; Commone, Chiara; Greco, Carlo; Leuzzi, Vincenzo:

    TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis

    Video vorhanden

    • Letter to the Editor

  • 150
    Algahtani, Hussein; Shirah, Bader; Daghistani, Mustafa; Al-Qahtani, Mohammad H.; Abdulkareem, Angham Abdulrahman; Naseer, Muhammad Imran:

    A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures

  • 153
    Vetri, Luigi; Calì, Francesco; Vinci, Mirella; Amato, Carmelo; Roccella, Michele; Granata, Tiziana; Freri, Elena; Solazzi, Roberta; Romano, Valentino; Elia, Maurizio:

    Letter to the Editor Regarding the Article “Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy”

    • Book Review

  • 154
    Ramantani, Georgia:

    Pediatric Epilepsy Surgery: Preoperative Assessment and Surgical Treatment