Neuropediatrics

Issue 02 · April 2021

Editorial
069
Plecko, Barbara:
TPK1 Deficiency—A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern

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071
Neubauer, Bernd A.:
Epilepsy in Neuropediatrics

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Review Article
073
Samanta, Debopam:
Recent Advances in the Diagnosis and Treatment of Neonatal Seizures

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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
FREE ACCESS

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Supplementary Material

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
FREE ACCESS

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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

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Supplementary Material

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

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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

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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

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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

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PDF (242 kb)
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

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PDF (282 kb)

Supplementary Material

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

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Supplementary Material

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

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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

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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

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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”

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Book Review
154
Ramantani, Georgia:
Pediatric Epilepsy Surgery: Preoperative Assessment and Surgical Treatment

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PDF (40 kb)

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Neuropediatrics

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

Epilepsy in Neuropediatrics

Recent Advances in the Diagnosis and Treatment of Neonatal Seizures

Risk Factors for Mortality among Newborns with Neonatal Seizures

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

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

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

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

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

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

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

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

Cerebral Toxocariasis as a Cause of Epilepsy: A Pediatric Case

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

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

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”

Pediatric Epilepsy Surgery: Preoperative Assessment and Surgical Treatment