Frontiers in Pediatrics | Pediatric Neurology

Case Report

Published on 17 Nov 2021

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

in Pediatric Neurology

Yuhua Pan
Xiaoling Guo
Xiaoqiang Zhou
Yue Liu
Jingli Lian
Tingting Yang
Xiang Huang
Fei He
Jian Zhang
Buling Wu

Frontiers in Pediatrics

doi 10.3389/fped.2021.775488

2,635 views
1 citation

Case Report

Published on 15 Nov 2021

A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

in Pediatric Neurology

Baiyu Lyu
Yan Dong
Juan Kang

Frontiers in Pediatrics

doi 10.3389/fped.2021.754261

3,053 views
8 citations

Original Research

Published on 11 Nov 2021

National U.S. Patient and Transplant Data for Krabbe Disease

in Pediatric Neurology

Gabrielle Ghabash
Jacob Wilkes
Joshua L. Bonkowsky

Frontiers in Pediatrics

doi 10.3389/fped.2021.764626

3,990 views
7 citations

Original Research

Published on 01 Nov 2021

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

in Pediatric Neurology

Chaoping Hu
Yiyun Shi
Lei Zhao
Shuizhen Zhou
Xihua Li

Frontiers in Pediatrics

doi 10.3389/fped.2021.759505

6,880 views
6 citations

Case Report

Published on 27 Oct 2021

Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

in Pediatric Neurology

Honghong Zhang
Yixi Sun
Yuxia Zhu
Jiali Hong
Miaomiao Zheng

Frontiers in Pediatrics

doi 10.3389/fped.2021.748641

4,131 views

Review

Published on 27 Oct 2021

Diagnostic Approach to Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections (PANDAS): A Narrative Review of Literature Data

in Pediatric Neurology

Adriana Prato
Mariangela Gulisano
Miriam Scerbo
Rita Barone
Carmelo M. Vicario
Renata Rizzo

Frontiers in Pediatrics

doi 10.3389/fped.2021.746639

40,347 views
29 citations

Case Report

Published on 27 Oct 2021

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

in Pediatric Neurology

Marco Cattalini
Jessica Galli
Fiammetta Zunica
Rosalba Monica Ferraro
Marialuisa Carpanelli
Simona Orcesi
Giovanni Palumbo
Lorenzo Pinelli
Silvia Giliani
Elisa Fazzi

Frontiers in Pediatrics

doi 10.3389/fped.2021.725868

4,883 views
18 citations

Case Report

Published on 22 Oct 2021

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

in Pediatric Neurology

Xu Zhang
Li Liu
Yang Liu
Xin Pan

Frontiers in Pediatrics

doi 10.3389/fped.2021.732645

5,855 views

Original Research

Published on 22 Oct 2021

Evaluation of MRI Features and Neurodevelopmental Outcomes for Prenatally Diagnosed Periventricular Pseudocysts

in Pediatric Neurology

Cong Sun
Xinjuan Zhang
Xin Chen
Xinhong Wei
Yufan Chen
Aocai Yang
Jinxia Zhu
Guangbin Wang

Frontiers in Pediatrics

doi 10.3389/fped.2021.681999

3,280 views
2 citations

Original Research

Published on 01 Oct 2021

Clinical Features and Outcomes in Pediatric Autoimmune Encephalitis Associated With CASPR2 Antibody

in Pediatric Neurology

Chengbing Tan
Yan Jiang
Min Zhong
Yue Hu
Siqi Hong
Xiujuan Li
Li Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2021.736035

4,539 views
10 citations

Case Report

Published on 01 Oct 2021

Case Report: High-Gamma Oscillations on an Ictal Electroencephalogram in a Newborn Patient With Hypoxic–Ischemic Encephalopathy

in Pediatric Neurology

Akihito Takeuchi
Takushi Inoue
Makoto Nakamura
Misao Kageyama
Tomoyuki Akiyama
Katsuhiro Kobayashi

Frontiers in Pediatrics

doi 10.3389/fped.2021.679771

2,446 views
3 citations

Review

Published on 30 Sep 2021

Neuromodulatory Support for Breathing and Cardiovascular Action During Development

in Pediatric Neurology

Ronald M. Harper
Kalpashri Kesavan

Frontiers in Pediatrics

doi 10.3389/fped.2021.753215

3,513 views
3 citations

Original Research

Published on 24 Sep 2021

Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze

in Pediatric Neurology

Li-Ping Zhang
Yu Jia
Yu-Ping Wang

Frontiers in Pediatrics

doi 10.3389/fped.2021.722105

3,086 views
3 citations

Case Report

Published on 17 Sep 2021

Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease

in Pediatric Neurology

Kenichi Maeda
Pin Fee Chong
Satoshi Akamine
Fumiya Yamashita
Yuya Morooka
Harushi Mori
Sooyoung Lee
Yumi Mizuno
Ryutaro Kira

Frontiers in Pediatrics

doi 10.3389/fped.2021.732110

4,845 views
3 citations

Original Research

Published on 17 Sep 2021

Bridging Pediatric and Adult Rehabilitation Services for Young Adults With Childhood-Onset Disabilities: Evaluation of the LIFEspan Model of Transitional Care

in Pediatric Neurology

Shauna Kingsnorth
Sally Lindsay
Joanne Maxwell
Yani Hamdani
Angela Colantonio
Jingqin Zhu
Mark Theodore Bayley
Colin Macarthur

Frontiers in Pediatrics

doi 10.3389/fped.2021.728640

4,717 views
14 citations

Original Research

Published on 16 Sep 2021

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance

in Pediatric Neurology

Han Zhang
Ye Wu
Yuwu Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2021.699568

3,824 views
9 citations

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Articles

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

National U.S. Patient and Transplant Data for Krabbe Disease

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Diagnostic Approach to Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections (PANDAS): A Narrative Review of Literature Data

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

Evaluation of MRI Features and Neurodevelopmental Outcomes for Prenatally Diagnosed Periventricular Pseudocysts

Clinical Features and Outcomes in Pediatric Autoimmune Encephalitis Associated With CASPR2 Antibody

Case Report: High-Gamma Oscillations on an Ictal Electroencephalogram in a Newborn Patient With Hypoxic–Ischemic Encephalopathy

Neuromodulatory Support for Breathing and Cardiovascular Action During Development

Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze

Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease

Bridging Pediatric and Adult Rehabilitation Services for Young Adults With Childhood-Onset Disabilities: Evaluation of the LIFEspan Model of Transitional Care

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance