DOI: 10.1055/s-00029030

Journal of Pediatric Neurology

eFirst

Publication Date: 02 August 2022

Case Report

Das, Suman; Ray, Biman K.; Chakraborty, Uddalak; Kabiraj, Sujoy: A Novel Variation of the Short-Chain Enoyl-CoA Hydratase-1 Gene Presenting with a Novel Mild Phenotype: The Second Case Report from India

Case Report

Goyal, Manisha; Faruq, Mohammed; Gupta, Ashok; Shrivastava, Divya; Shamim, Uzma: Deletion of 2q22.2q22.3 in Mowat–Wilson Syndrome: A Case Report and Review of the Literature

Case Report

Pattrakornkul, Nalinee; Siriboriruk, Jukrapun: Central Nervous System Involvement in Dengue Virus Type 1 Infection: A Pediatric Case Series

Review Article

Chaudhry, Thymur Ali; Palabiyik, Figen; Moum, Sarah J.: Cerebrovascular Complications in Pediatric Patients with COVID-19 Infection

Publication Date: 11 July 2022

Case Report

Balik, Ayse Özlem; Gurdal Kosem, Esra: Acute Disseminated Encephalomyelitis with Prefrontal Cortex Involvement in a 9-Year-Old Child after COVID-19 Infection: A Case Report

Case Report

Banerjee, Bidisha; Thanvi, Ayesha; Prabhu, Sameeta M.: Profile and Outcome of Children with Opsoclonus Myoclonus Ataxia: A Tertiary Care Hospital Experience from India

Case Report

Gemici, Utku; Güngör, Mesut; Kara, Bulent; Anik, Yonca: Reversible Splenial Lesion Syndrome and Multisystem Inflammatory Syndrome Findings in a Child with SARS-COV-2 Infection

Case Report

Membrilla, Javier A.; Sastre-Real, María; Tirado, Pilar; Díaz-de-Terán, Javier: Migraine with Brainstem Aura Associated with SCN2A Mutation: A Case Report

Original Article

Ayça, Senem; Dogan, Ceren: Hydroxocobalamin Treatment and Pediatric Migraine Disability Assessment Scale Scores

Publication Date: 27 June 2022

Original Article

Akyuz, Merve; Dursun, Nigar; Gokbel, Tugba; Cekmece, Cigdem; Dursun, Erbil: Improved Sitting Balance in Children with Cerebral Palsy: Body Functions to Activity and Participation

Publication Date: 22 June 2022

Case Report

Das, Suman; Ray, Biman Kanti; Chakraborty, Uddalak; Kabiraj, Sujoy: Disseminated Staphylococcal Disease Complicated with Intracranial Internal Carotid Artery Mycotic Pseudoaneurysm and Cerebral Infarcts—A Rare Presentation in a Malnourished Child

Case Report

Shabo, Leah; Ishaque, Mariam; Sarathy, Danyas; Kumar, Jeyan; Xixis, Kathryn; Park, Min: Pediatric Tacrolimus-Induced Reversible Cerebral Vasoconstriction Syndrome after Heart Transplantation

Publication Date: 20 June 2022

Case Report

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
Supplementary Material

Review Article

Koral, Korgun: Foreword

Publication Date: 06 May 2022

Case Report

Ahmed, Suha; Malalla, Husain; Busehail, Mariam: A Case Report of Two Bahraini Siblings Presenting with Different Rare Neurogenetic Disorders: Congenital Insensitivity to Pain with Anhidrosis and Rigid Spine Muscular Dystrophy

Publication Date: 25 April 2022

Case Report

AlFaris, Haya Salman; AlJefri, Abdullah Hussain; Alsowat, Daad Khalaf: Abnormal Movement Following Transcobalamin II Deficiency Treatment Responding to Clonazepam: A Case Report

Publication Date: 22 April 2022

Case Report

Bajaj, Shruti; Gadgil, Pradnya; Seenappa, Venu; Setty, Phani N.; Joshi, Vaishali; Shah, Shailee: Novel De Novo TBL1XR1 Variant Causing PIERPONT Syndrome in an Indian Child: A Case Report and Genotype–Phenotype Review of Reported Patients
Supplementary Material

Case Report

Pavlovic, Momcilo: A Case Report of Early-Onset Frey's Syndrome in an Infant

Publication Date: 04 March 2022

Case Report

Bastos, Paulo André Dias; Barbosa, Raquel: A Newly Identified Int22h1/Int22h2‐Mediated Xq28 Duplication Syndrome Case Misdiagnosed as Cerebral Palsy

Publication Date: 28 February 2022

Original Article

Imamoglu, Sena; Kenis-Coskun, Ozge; Deveci, Mehmet; Ozturk, Gulten; Karadag-Saygi, Evrim: Validity and Reliability of Quick Motor Function Test in Ambulatory Duchenne Muscular Dystrophy Patients

Publication Date: 14 February 2022

Case Report

Jafar, Bedour; Sharma, Kamal; Sheikh, Ameera; Maertens, Paul: The Novel Use of a Synthetic Amino Acid Analog in the Management of Menkes' Disease

Case Report

Manjunath, Mridula Arabu; Nagabushana, Divya; M., Pradeep G. C.; Mangalgi, Sharanabasavesh; Veerabhadraiah, Krithika Manne: Congenital Radial Nerve Palsy in a Preterm Baby—A Case Report

Case Report

Reading, Jacob; Bhatt, Ree'Thee; Kilbey, Laura; Breene, Richard; Hall, Georgina; Kavirayani, Akhila; Joseph, Robin; Ramdas, Sithara: Double Trouble: Stroke in a Child with Down's Syndrome

Publication Date: 21 January 2022

Case Report

Kannan, Varun; Risen, Sarah: Posterior Reversible Encephalopathy Syndrome in a Child with Sickle Cell Disease and SARS-CoV-2 Infection

Case Report

Kobayashi, Kenichiro; Tanaka, Kuniaki; Iwai, Atsushi; Taki, Junya; Kitagawa, Masashi; Hayashi, Tomoko; Tsuzuki, Sadatoshi; Yamamoto, Tetsuro; Yoshioka, Takako; Hirato, Junko; Maihara, Toshiro; Yamada, Keisuke; Usami, Ikuya; Heike, Toshio: Primary Diffuse Leptomeningeal Atypical Teratoid/Rhabdoid Tumor Initially Masquerading as Guillain–Barré Syndrome: A Case Report and Literature Review

Publication Date: 20 December 2021

Case Report

Korkmaz, Muhammet Furkan; Ekici, Arzu; Görükmez, Orhan: A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

Publication Date: 17 December 2021

Case Report

Koul, Roshan; Maria, Arjun; Alam, Seema: Laterotrusion (Side to Side) and Protrusion/Retraction Difficulty of Tongue in Two Children with Wilson's Disease

Publication Date: 13 December 2021

Case Report

Calì, Alessandro; Scalia, Gianluca; Marrone, Salvatore; Riolo, Carmelo; Vasta, Giuseppe; Umana, Giuseppe Emmanuele; Cicero, Salvatore; Iacopino, Domenico Gerardo; Nicoletti, Giovanni Federico: Neuroendoscopic Navigated One-Step Removal of Crossed Ventricular Catheter Fragments: Technical Note

Publication Date: 25 November 2021

Case Report

Robinson, Amy; Chapman, Louise; Watts, Wendy: Acute Disseminated Encephalomyelitis in a 2-Year-Old Patient Following COVID-19

Publication Date: 16 November 2021

Original Article

Wanigasinghe, Jithangi; Anuradha, K. W. D. A.; Chang, Thashi: Pediatric Autoimmune Encephalitis in Sri Lanka: A Single-Center Experience over 7 Years

Publication Date: 25 October 2021

Case Report

Shree, Nivya; Kommalur, Anitha; M., Lakshmi; Kariyappa, Mallesh; Devadas, Sahana; Kumble, Dhanalakshmi; Sajjan, Sushma Veeranna; Rangegowda, Ravichandra Kothur; Patel, Ashray Sudarshan: Acute Ischemic Stroke in a Young Child and Its Association with SARS-CoV-2 Infection

Publication Date: 26 June 2021

Case Report

Swartwood, Shanna; Nelson, Gary R.; Espinoza, Audie C.: Stroke as Presenting Feature of COVID-19 in a Pediatric Patient

Publication Date: 01 June 2021

Review Article

Patanè, Francesca; Pasquetti, Elisa; Sullo, Federica; Tosto, Monica; Romano, Catia; Salafia, Stefania; Falsaperla, Raffaele: SLC2A1 and Its Related Epileptic Phenotypes

Publication Date: 28 May 2021

Review Article

Praticò, Andrea; Gulizia, Carmela; Gangi, Gloria; Oliva, Claudia; Romano, Catia; Marino, Simona; Polizzi, Agata; Ruggieri, Martino; Falsaperla, Raffaele: SCN8A and Its Related Epileptic Phenotypes

Publication Date: 21 May 2021

Case Report

Jiménez-Legido, María; Soto-Insuga, Víctor; Luján-Bonete, Manuel; Cantarín-Extremera, Verónica; Bernardino-Cuesta, Beatriz; Mansilla-Lozano, David; Leoz-Gordillo, Inés; Rodríguez-Palero, Serafín; Buendía-Martínez, Silvia; Duat-Rodríguez, Anna; Ruíz-Falcó-Rojas, María Luz: Critical Illness Myopathy in a Child with SARS-CoV-2 Infection

Review Article

Di Napoli, Claudia; Gennaro, Alessia; Lupica, Carmelania; Falsaperla, Raffaele; Leonardi, Roberta; Garozzo, Maria Teresa; Polizzi, Agata; Praticò, Andrea D.; Zanghì, Antonio; Ruggieri, Martino: TSC1 and TSC2: Tuberous Sclerosis Complex and Its Related Epilepsy Phenotype

Review Article

Garozzo, Maria Teresa; Caruso, Daniela; La Mendola, Flavia Maria Consuelo; Di Nora, Alessandra; Romano, Katia; Leonardi, Roberta; Falsaperla, Raffaele; Zanghì, Antonio; Praticò, Andrea D.: SYNGAP1 and Its Related Epileptic Syndromes
Supplementary Material

Review Article

La Mendola, Flavia Maria Consuelo; Timpanaro, Tiziana; Caruso, Daniela; Garozzo, Maria Teresa; Presti, Santiago; Romano, Catia; Praticò, Elena R.; Lombardo, Giulia; Zanghì, Antonio; Falsaperla, Raffaele: ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Review Article

Massimino, Carmela Rita; Portale, Laura; Sapuppo, Annamaria; Pizzo, Francesco; Sciuto, Laura; Romano, Catia; Salafia, Stefania; Falsaperla, Raffaele: PRRT2 Related Epilepsies: A Gene Review

Review Article

Mazzurco, Marina; Pulvirenti, Giulio; Caccamo, Martina; Presti, Santiago; Soma, Rachele; Salafia, Stefania; Praticò, Elena R.; Filosco, Federica; Falsaperla, Raffaele; Praticò, Andrea D.: PCDH19-Related Epilepsies

Review Article

Motta, Milena; Consentino, Maria Chiara; Fontana, Alessandra; Sciuto, Laura; Falsaperla, Raffaele; Praticò, Elena R.; Salafia, Stefania; Zanghì, Antonio; Praticò, Andrea D.: DNM1 Gene and Its Related Epileptic Phenotypes

Review Article

Pecora, Giulia; Sortino, Vincenzo; Brafa Musicoro, Viviana; Salomone, Giulia; Pizzo, Francesco; Costanza, Giuseppe; Falsaperla, Raffaele; Zanghì, Antonio; Praticò, Andrea D.: FOXG1 Gene and Its Related Phenotypes

Review Article

Pulvirenti, Giulio; Caccamo, Martina; Lo Bianco, Manuela; Mazzurco, Marina; Praticò, Elena R.; Giallongo, Alessandro; Gangi, Gloria; Zanghì, Antonio; Falsaperla, Raffaele: Calcium Channels Genes and Their Epilepsy Phenotypes

Review Article

Sapuppo, Annamaria; Portale, Laura; Massimino, Carmela R.; Presti, Santiago; Tardino, Lucia; Marino, Simona; Polizzi, Agata; Falsaperla, Raffaele; Praticò, Andrea D.: GRIN2A and GRIN2B and Their Related Phenotypes

Review Article

Timpanaro, Tiziana; La Mendola, Flavia; Billone, Sebastiano; Nora, Alessandra Di; Collotta, Ausilia; Sauna, Alessandra; Salafia, Stefania; Falsaperla, Raffaele: TBC1D24 and Its Related Epileptic Encephalopathy

Review Article

Venti, Valeria; Ciccia, Lina; Scalia, Bruna; Sciuto, Laura; Cimino, Carla; Marino, Simona; Praticò, Andrea D.; Falsaperla, Raffaele: KCNT1-Related Epilepsy: A Review

Publication Date: 14 May 2021

Erratum

Praticò, Andrea D.; Falsaperla, Raffaele; Polizzi, Agata; Ruggieri, Martino: Erratum: Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and Otheropathies

Erratum

Praticò, Andrea D.; Giallongo, Alessandro; Arrabito, Marta; D'Amico, Silvia; Gauci, Maria Cristina; Lombardo, Giulia; Polizzi, Agata; Falsaperla, Raffaele; Ruggieri, Martino: Erratum: SCN2A and Its Related Epileptic Phenotypes

Publication Date: 14 April 2021

Review Article

Patanè, Francesca; Pasquetti, Elisa; Sullo, Federica; Tosto, Monica; Sciuto, Laura; Garozzo, Maria Teresa; Praticò, Elena R.; Falsaperla, Raffaele: SLC25A22 and Its Related Epileptic Encephalopathies

Publication Date: 13 April 2021

Review Article

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

Review Article

Ciccia, Lina Maria; Scalia, Bruna; Venti, Valeria; Pizzo, Francesco; Pappalardo, Maria Grazia; La Mendola, Flavia Maria Consuelo; Falsaperla, Raffaele; Praticò, Andrea D.: CDKL5 Gene: Beyond Rett Syndrome

Review Article

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

Review Article

Fontana, Alessandra; Consentino, Maria Chiara; Motta, Milena; Costanza, Giuseppe; Lo Bianco, Manuela; Marino, Simona; Falsaperla, Raffaele; Praticò, Andrea D.: Syntaxin Binding Protein 1 Related Epilepsies

Review Article

Pasquetti, Elisa; Lo Bianco, Manuela; Sullo, Federica; Patanè, Francesca; Sciuto, Laura; Polizzi, Agata; Praticò, Andrea D.; Zanghì, Antonio; Falsaperla, Raffaele: SCN1B Gene: A Close Relative to SCN1A

Review Article

Portale, Anna; Comella, Mattia; Salomone, Giulia; Di Nora, Alessandra; Marino, Lidia; Leonardi, Roberta; Praticò, Andrea D.; Falsaperla, Raffaele: The Spectrum of KCNQ2- and KCNQ3-Related Epilepsy

Review Article

Praticò, Andrea D.; Falsaperla, Raffaele; Polizzi, Agata; Ruggieri, Martino: Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and Otheropathies

Review Article

Salomone, Giulia; Comella, Mattia; Portale, Anna; Pecora, Giulia; Costanza, Giuseppe; Lo Bianco, Manuela; Sciuto, Sarah; Praticò, Elena R.; Falsaperla, Raffaele: The Spectrum of DEPDC5-Related Epilepsy

Review Article

Sauna, Alessandra; Sciuto, Laura; Criscione, Roberta; Messina, Giulia; Presti, Santiago; Soma, Rachele; Oliva, Claudia; Salafia, Stefania; Falsaperla, Raffaele: MECP2-Related Disorders and Epilepsy Phenotypes

Review Article

Scalia, Bruna; Venti, Valeria; Ciccia, Lina M.; Criscione, Roberta; Lo Bianco, Manuela; Sciuto, Laura; Falsaperla, Raffaele; Zanghì, Antonio; Praticò, Andrea D.: Aristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond Lissencephaly and Brain Malformations

Review Article

Sullo, Federica; Pasquetti, Elisa; Patanè, Francesca; Lo Bianco, Manuela; Marino, Simona D.; Polizzi, Agata; Falsaperla, Raffaele; Ruggieri, Martino; Zanghì, Antonio; Praticò, Andrea D.: SCN1A and Its Related Epileptic Phenotypes

Publication Date: 27 March 2021

Case Report

Şimşek, Sadullah; Hattapoğlu, Salih; Ekici, Faysal: Value of Magnetic Resonance Spectroscopy for Diagnosis of Creatine Deficiency Syndrome

Review Article

Praticò, Andrea D.; Giallongo, Alessandro; Arrabito, Marta; D'Amico, Silvia; Gauci, Maria Cristina; Lombardo, Giulia; Polizzi, Agata; Falsaperla, Raffaele; Ruggieri, Martino: SCN2A and Its Related Epileptic Phenotypes

Publication Date: 16 March 2021

Review Article

Al-Mirza, Abdulrahman; Al-Taei, Omar; Al-Saadi, Tariq: Cognitive Deficits in Pediatric Craniopharyngioma: An Updated Review