DOI: 10.1055/s-00000041

Neuropediatrics

Issue 03 · Volume 55 · June 2024 DOI: 10.1055/s-014-59593

Review Article

  • 149
  • 156
    Öz Yıldız, Sibel; Yalnızoğlu, Dilek; Şimsek Kiper, Pelin Özlem; Göçmen, Rahşan; Soğukpınar, Merve; Utine, Gülen Eda; Haliloğlu, Göknur:

    Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

  • Original Article

  • 166
    Almomen, Momen; Amer, Fawzia; Alfaraj, Fatima; Burgon, Patrick G.; Bashir, Shahid; Alghamdi, Fouad:

    STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients

  • 171
  • 178
    Gao, Xin; Xin, Guoyan; Tu, Ya; Liang, Xiaoping; Yang, Huimin; Meng, Hong; Wang, Yumin:

    TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review

  • 183
    Pais-Cunha, Inês; Almeida, Ana I.; Curval, Ana R.; Fonseca, Jacinta; Melo, Cláudia; Sampaio, Mafalda; Sousa, Raquel:

    Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis

  • Case Report

  • 191
    Pasca, Ludovica; Politano, Davide; Cavallini, Anna; Panzeri, Elena; Vigone, Maria Cristina; Baldoli, Cristina; Abbate, Marco; Kullmann, Gaia; Marelli, Susan; Pozzobon, Gabriella; Vincenzi, Gaia; Nacinovich, Renata; Bassi, Maria Teresa; Romaniello, Romina:

    A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype

  • Short Communication

  • 196
  • 200
    Yıldırım, Miraç; Yarenci, Gülçin Bilicen; Genç, Mustafa Berk; Uçar, Çiğdem İlter; Bayav, Secahattin; Tekin, Merve Nur; Bektaş, Ömer; Teber, Serap:

    VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review

  • 205
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    Gebert, Johannes; Brunet, Theresa; Wagner, Matias; Rath, Jakob; Aull-Watschinger, Susanne; Pataraia, Ekaterina; Krenn, Martin:

    A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism

  • Videos and Images in Neuropediatrics

  • 213
    Freitas, Leonardo Furtado; Miranda, Eduardo Carvalho; Amaro, Aline Pimentel; Narvaez, Eduardo de Oliveira; Duarte, Márcio Luís:

    Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome

  • 215
    Zaddach, Malin; Wagner, Johanna; Kunz, Mathias; Paolini, Marco; Borggraefe, Ingo; Heinen, Florian:

    Colloid Cyst Causing Massive Headache Attacks