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Journal of Pediatric Neurology


Journal of Pediatric Neurology


Issue 01 ·


Volume 22 ·


February 2024


DOI: 10.1055/s-014-59696



Reviewer List



Review Article



008


Filosco, Federica;

Billone, Sebastiano;

Collotta, Ausilia;

Timpanaro, Tiziana;

Tosto, Monica;

Falsaperla, Raffaele;

Marino, Silvia;

Zanghì, Antonio;

Praticò, Andrea D.:



WDR45

Gene and Its Role in Pediatric Epilepsies



013


Brafa Musicoro, Viviana;

Sortino, Vincenzo;

Pecora, Giulia;

Tosto, Monica;

Lo Bianco, Manuela;

Soma, Rachele;

Romano, Catia;

Falsaperla, Raffaele;

Praticò, Andrea D.:


Gamma-Aminobutyric Acid Type A Receptor Genes and Their Related Epilepsies



021


Timpanaro, Tiziana;

La Mendola, Flavia;

Billone, Sebastiano;

Nora, Alessandra Di;

Collotta, Ausilia;

Sauna, Alessandra;

Salafia, Stefania;

Falsaperla, Raffaele:



TBC1D24

and Its Related Epileptic Encephalopathy



Original Article



037


Nagpal, Tuhina;

Goyal, Manisha;

Mathur, Priyanshu;

Agrawal, Kamlesh Kumar;

Gupta, Ashok:


Screening for Pompe Disease in High-Risk Pediatric Patients: Experience from a Tertiary Care Center in Rajasthan




Case Report


050


Sanchez-Marco, Silvia Beatriz;

Pierre, Germaine;

Sharples, Peta;

Love, Seth;

Urankar, Kathryn;

Hilliard, Tom;

Lunt, Peter;

Churchill, Amanda;

Aungraheeta, Riyaad;

Dallosso, Anthony;

Evans, Julie;

Williams, Maggie;

Majumdar, Anirban:


Severe Congenital Myopathy and Neuropathy with Congenital Cataracts due to

GFER

Variant: A Neuropathological Study




060


Agrawal, Akriti;

Budania, Anil;

Saini, Lokesh;

Tiwari, Sarbesh;

Vedant, Deepak;

Benny, Benetta:


Limb Hypertrophy—An Uncommon Presentation Yet a Common Link among Neurocutaneous Syndromes: A Series of Three Cases



064


Mahović, Darija;

Bračić, Matea;

Jovanović, Ivan;

Gabrić, Ivo Darko:


Recurrent Painful Ophthalmoplegic Neuropathy Mistaken for Oculomotor Schwannoma: A Case Report



068




077


Wang, Sixuan;

Dou, Zhenzhen;

Feng, Wenya;

Hu, Bing;

Cui, Yanhui;

Yang, Xiaojian;

Li, Li;

Ge, Wentong;

Liu, Gang:



Streptococcus constellatus

-Induced Blindness in a 10-Year-Old Boy: A Case Report



Letter to the Editor



Retraction Note





Editorial