DOI: 10.1055/s-00000041

Neuropediatrics

Issue 01 · Volume 53 · February 2022 DOI: 10.1055/s-012-52710

Original Article

  • 001
  • 007
    Galli, Jessica; Loi, Erika; Morandi, Alessandra; Scaglioni, Vera; Rossi, Andrea; Molinaro, Anna; Pasini, Nadia; Semeraro, Francesco; Ruberto, Giulio; Fazzi, Elisa:

    Neurodevelopmental Profile in Children Affected by Ocular Albinism

  • 015
  • 020
    Madaan, Priyanka; Kaur, Amrit; Saini, Lokesh; Paria, Pradip; Vyas, Sameer; Sharma, Amit R.; Sahu, Jitendra K.:

    PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases

  • 026
  • 032
  • 039
    Holzwarth, Johanna; Minopoli, Nadja; Pfrimmer, Charlotte; Smitka, Martin; Borrel, Sabine; Kirschner, Janbernd; Muschol, Nicole; Hartmann, Hans; Hennermann, Julia B.; Neubauer, Bernd A.; Hobbiebrunken, Elke; Husain, Ralf A.; Hahn, Andreas:

    Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

  • 046
    Sourbron, Jo; Jansen, Katrien; Mei, Davide; Hammer, Trine Bjørg; Møller, Rikke S.; Gold, Nina B.; O'Grady, Lauren; Guerrini, Renzo; Lagae, Lieven:

    SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy

  • 052
  • Short Communication

  • 061
    Brisca, Giacomo; Sotgiu, Stefano; Pirlo, Daniela; Tubino, Barbara; Siri, Laura; Chianucci, Benedetta; Carta, Alessandra; Rossi, Andrea; Mallamaci, Marisa; Cataldi, Matteo; Mancardi, Maria Margherita:

    Longitudinally Extensive Transverse Myelitis (LETM) and Myopericarditis in a 7-Month-Old Child with SARs-CoV-2 Infection

  • 065
    Murofushi, Yuka; Hayakawa, Itaru; Abe, Yuichi; Ohto, Tatsuyuki; Murayama, Kei; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Kubota, Masaya:

    Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy

  • Resident and Fellow Section: Short Communication

  • 069
    Cordani, Ramona; Pisciotta, Livia; Mancardi, Maria Margherita; Stagnaro, Michela; Prato, Giulia; Giacomini, Thea; Morana, Giovanni; Walsh, Peter; Ghia, Twinkle; Nobili, Lino; De Grandis, Elisa:

    Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

  • Videos and Images in Neuropediatrics

  • 075
  • 078
    Franco, Igor de Assis; Vale, Thiago Cardoso; Freitas, Leonardo Furtado; Barbosa, André Vinícius Soares; Aragão, Marcelo de Melo; Rodrigues, Marcelo Masruha:

    Obstructive Hydrocephalus Presenting with Bobble-Head Doll Syndrome

  • Book Review

  • 080
  • 081