A case of pediatric anti-leucine-rich glioma inactivated 1 encephalitis with faciobrachial dystonic seizure
Anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis is a rare type of autoimmune encephalitis. A characteristic faciobrachial dystonic seizure (FBDS) is also frequently associated with this disease. Although primarily reported in the adult population, reports of its occurrence in the pediatric population are rare. Here, we describe a case of a 6-year-old girl diagnosed with anti-LGI1 encephalitis that presented with cognitive decline and FBDS. (Source: Brain and Development)
Source: Brain and Development - February 27, 2023 Category: Neurology Authors: Seoyun Jang, Soo Yeon Kim, Woo Joong Kim, Jong-Hee Chae, Ki Joong Kim, Byung Chan Lim Tags: Case Report Source Type: research
Obituary
Dr. Masataka Arima (Source: Brain and Development)
Source: Brain and Development - February 22, 2023 Category: Neurology Authors: Katsuhiro Kobayashi Source Type: research
Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 2020
Good sleep is essential for children ’s healthy growth. In 2005, we conducted a questionnaire survey on children’s sleep habits and their background, targeting parents who attended health checkups for their 3-year-old children in Asahikawa City, Hokkaido. In 2020, we performed a secondary survey, including additional questions rega rding media usage. We analyzed changes in children’s sleep environment by comparing the results of both surveys. (Source: Brain and Development)
Source: Brain and Development - February 17, 2023 Category: Neurology Authors: Satomi Okano, Akiko Araki, Kayano Kimura, Ikue Fukuda, Akie Miyamoto, Hajime Tanaka Tags: Original article Source Type: research
MR vessel wall enhancement in a pediatric focal cerebral arteriopathy
We describe the case of a 7-year-old Japanese girl with right hemiplegia and dysarthria for 3 days. Brain MRI showed acute infarct in the left basal ganglia, and MRA and conventional cerebral angiogram detected vascular stenosis in the left distal internal carotid artery, left M1 and A1 segments. (Source: Brain and Development)
Source: Brain and Development - February 17, 2023 Category: Neurology Authors: Shoko YOSHII, Rina FUKUI, Shinya HATTORI, Ryo YAMAGUCHI, Ryo FUJIMOTO, Hiromi AOYAMA, Taku OMATA Tags: Case Report Source Type: research
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients
POMT2-related limb girdle muscular dystrophy (LGMDR14) is a rare muscular dystrophy caused by mutations in the POMT2 gene. Thus far only 26 LGMDR14 subjects have been reported and no longitudinal natural history data are available. (Source: Brain and Development)
Source: Brain and Development - February 14, 2023 Category: Neurology Authors: Chiara Panicucci, Sara Casalini, Beatrice M. Damasio, Noemi Brolatti, Marina Pedemonte, Alessandra Biolcati Rinaldi, Simone Morando, Luca Doglio, Lizzia Raffaghello, Chiara Fiorillo, Federico Zara, Giorgio Tasca, Claudio Bruno Tags: Case Report Source Type: research
Acknowledgments to Anonymous Reviewers in 2022
(Source: Brain and Development)
Source: Brain and Development - February 10, 2023 Category: Neurology Source Type: research
Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A
Hemorrhagic shock and encephalopathy syndrome (HSES) is a serious condition that requires intensive care and is associated with a high mortality rate. However, its pathogenesis remains unclear. In the present study, a genetic analysis was performed to determine the genetic background of patients with clinically suspected Dravet syndrome (DS) who developed HSES. (Source: Brain and Development)
Source: Brain and Development - February 9, 2023 Category: Neurology Authors: Hiroaki Hanafusa, Hiroshi Yamaguchi, Hidehito Kondo, Miwako Nagasaka, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Masahiro Nishiyama, Naoya Morisada, Masafumi Matsuo, Kandai Nozu, Hiroaki Nagase Tags: Original article Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - February 8, 2023 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - February 8, 2023 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - February 8, 2023 Category: Neurology Source Type: research
A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay
The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant pons and cerebellum involvement. (Source: Brain and Development)
Source: Brain and Development - February 7, 2023 Category: Neurology Authors: P ınar Özkan Kart, Senol Citli, Nihal Yildiz, Ali Cansu Tags: Case Report Source Type: research
Clinical value of therapeutic drug monitoring for levetiracetam in pediatric patients with epilepsy
To identify pediatric patients who require therapeutic drug monitoring (TDM) of levetiracetam (LEV). (Source: Brain and Development)
Source: Brain and Development - February 7, 2023 Category: Neurology Authors: Yoshiaki Yamamoto, Akiko Ohta, Naotaka Usui, Katsumi Imai, Yoshiyuki Kagawa, Yukitoshi Takahashi Tags: Original article Source Type: research
Increase in children with developmental delay: Survey on 18-month-old children in Togane city, Japan
The objective of this study is to analyze the developmental delay in children and their background. (Source: Brain and Development)
Source: Brain and Development - February 2, 2023 Category: Neurology Authors: Hideki Uchikawa, Seika Yamoto, Mika Saito Tags: Original article Source Type: research
Myoclonic super-refractory status epilepticus with favourable evolution in a teenager with FIRES: Is the association of vagus nerve stimulation and cannabidiol effective?
We describe a case of myoclonic prolonged super refractory status epilepticus (P-SRSE) in FIRES in a patient admitted to the paediatric intensive care unit of Padova, Italy. (Source: Brain and Development)
Source: Brain and Development - January 30, 2023 Category: Neurology Authors: Claudia Maria Bonardi, Giulia Melinda Furlanis, Irene Toldo, Brando Guarrera, Concetta Luisi, Andrea Pettenazzo, Margherita Nosadini, Clementina Boniver, Stefano Sartori, Andrea Landi Tags: Case Report Source Type: research
A novel splice site CUL3 variant in a patient with neurodevelopmental delay
We report the first individual with a neurodevelopmental disorder attributed to a CUL3 splice site variant. (Source: Brain and Development)
Source: Brain and Development - January 27, 2023 Category: Neurology Authors: Krista M. Vincent, Danielle K. Bourque Tags: Case Report Source Type: research
