Editorial Board
(Source: Brain and Development)
Source: Brain and Development - August 25, 2023 Category: Neurology Source Type: research
Call For Abstracts For Oral And Poster Presentations The International Session
(Source: Brain and Development)
Source: Brain and Development - August 25, 2023 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - August 25, 2023 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - August 25, 2023 Category: Neurology Source Type: research
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview
ATP6V1B2 (ATPase, H+ transporting, lysosomal VI subunit B, isoform 2) encodes for a subunit of a ubiquitous transmembrane lysosomal proton pump, implicated in the acidification of intracellular organelles and in several additional cellular functions. Variants in ATP6V1B2 have been related to a heterogeneous group of multisystemic disorders sometimes associated with variable neurological involvement. However, our knowledge of genotype-phenotype correlations and the neurological spectrum of ATP6V1B2-related disorders remain limited due to the few numbers of reported cases. (Source: Brain and Development)
Source: Brain and Development - August 24, 2023 Category: Neurology Authors: Greta Amore, Elisa Cal ì, Maria Spanò, Giorgia Ceravolo, Giuseppe Donato Mangano, Giovanna Scorrano, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Gabriella Di Rosa Tags: Case Report Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - August 22, 2023 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - August 22, 2023 Category: Neurology Source Type: research
A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D
Kabuki syndrome (KS) and spinocerebellar ataxia (SCA) are both rare conditions with neurodevelopmental abnormalities. Approaching a patient with complex phenotypes and differentiating the role of mutations may be beneficial but challenging in predicting the disease prognosis. (Source: Brain and Development)
Source: Brain and Development - August 18, 2023 Category: Neurology Authors: Yu-Ming Chang, Yu-Wen Pan, Yen-Yin Chou, Wen-Hao Yu, Meng-Che Tsai Tags: Case Report Source Type: research
Usefulness of arterial spin labeling imaging, which contributed to the early detection of cerebellitis complicated by clinically mild encephalitis/encephalopathy with a reversible splenial lesion: Lessons from three cases
Cerebellitis is a rare complication of clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS); however, MERS with cerebellitis is associated with a higher risk of neurological sequelae in comparison to MERS alone. Although the disease is difficult to diagnose by conventional MRI in the early disease phase, arterial spin labeling (ASL), a noninvasive MRI perfusion technique using magnetically-labeled arterial blood water protons, is considered promising. (Source: Brain and Development)
Source: Brain and Development - August 9, 2023 Category: Neurology Authors: Nanako Nishiguchi, Tatsuharu Sato, Kazuhiko Hashimoto, Takuya Hayashida, Kouhei Haraguchi, Reiko Ideguchi, Hiroyuki Moriuchi Tags: Case Report Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - August 9, 2023 Category: Neurology Source Type: research
Call For Abstracts For Oral And Poster Presentations The International Session
(Source: Brain and Development)
Source: Brain and Development - August 9, 2023 Category: Neurology Source Type: research
A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation
MECP2 is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene. (Source: Brain and Development)
Source: Brain and Development - August 5, 2023 Category: Neurology Authors: Mari Akiyama, Tomoyuki Akiyama, Hirotomo Saitsu, Yukie Tokioka, Rie Tsukahara, Hiroki Tsuchiya, Takashi Shibata, Katsuhiro Kobayashi Tags: Case Report Source Type: research
Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy
Mutations in the FBXO28 gene, which encodes FBXO28, one of the F-box protein family, may cause developmental and epileptic encephalopathy (DEE). FBXO28-related DEE is radiologically characterized by cerebral atrophy, delayed/abnormal myelination, and brain malformation; however, no neurochemical analyses have been reported.Case report: A female Japanese infant presented with severe psychomotor delay, epileptic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the FBXO28 gene, leading to the diagnosis of FBXO28-related DEE. (Source: Brain and Development)
Source: Brain and Development - August 3, 2023 Category: Neurology Authors: Kentaro Sano, Fuyuki Miya, Mitsuhiro Kato, Taku Omata, Jun-ichi Takanashi Tags: Case Report Source Type: research
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen
This study aimed to evaluate the neurofilament light chain (NfL) as a biomarker for treatment responses in children with a broad spectrum of spinal muscular atrophy (SMA) under nusinersen treatment. (Source: Brain and Development)
Source: Brain and Development - August 2, 2023 Category: Neurology Authors: Gigyo Seo, Saeyoon Kim, Jun Chul Byun, Soonhak Kwon, Yun Jeong Lee Source Type: research
A screening method for visual attention disabilities in cerebral palsy with periventricular leukomalacia
Patients with periventricular leukomalacia (PVL) have been reported to have a variety of complications; however, whether these involve impaired visual attention disabilities remains unclear. Therefore, this study aimed to investigate the presence or absence and degree of visual attention disabilities in patients with PVL and propose a screening test that would allow anyone to check for visual attention disabilities easily. (Source: Brain and Development)
Source: Brain and Development - July 28, 2023 Category: Neurology Authors: Toshiyuki Shimizu, Yasushi Miura Tags: Original article Source Type: research
