Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report
CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine. (Source: Brain and Development)
Source: Brain and Development - April 18, 2024 Category: Neurology Authors: Sebasti án Silva, Mónica Rosas, Benjamín Guerra, Marión Muñoz, Atsushi Fujita, Masamune Sakamoto, Naomichi Matsumoto Source Type: research
Effects of increased physical therapy staffing in the neonatal intensive care unit on oral feeding maturation and neurodevelopment of extremely low birth weight infants
It remains a matter of debate as to what extent early intervention may facilitate long-term functional outcomes of preterm infants in the neonatal intensive care unit (NICU). We aimed to examine the effect of increasing physical therapy (PT) staff dedicated to the NICU on temporal changes (initiation, duration) of PT interventions and functional outcomes (acquisition of full oral feeding and Hammersmith Neonatal Neurological Examination). (Source: Brain and Development)
Source: Brain and Development - March 30, 2024 Category: Neurology Authors: Yoshinori Morioka, Masayuki Nonogaki, Daiyu Kobayashi, Junji Nishimoto, Shigeru Obayashi Tags: Original Article Source Type: research
Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy
Autism spectrum disorder (ASD) ranges from mild to severe symptoms, with autistic traits possibly distributed throughout the population. However, the precise neurodevelopmental differences in children with autistic traits remain unknown. (Source: Brain and Development)
Source: Brain and Development - March 30, 2024 Category: Neurology Authors: Taemi Niimi, Yuji Inaba, Hideo Honda Tags: Original Article Source Type: research
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(Source: Brain and Development)
Source: Brain and Development - March 23, 2024 Category: Neurology Source Type: research
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(Source: Brain and Development)
Source: Brain and Development - March 23, 2024 Category: Neurology Source Type: research
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(Source: Brain and Development)
Source: Brain and Development - March 23, 2024 Category: Neurology Source Type: research
Prophylactic antiseizure medications for recurrent status epilepticus in nonsyndromic childhood epilepsy
This study aimed to investigate the effectiveness of prophylactic antiseizure medications (ASMs) for SEs in nonsyndromic childhood epilepsy. (Source: Brain and Development)
Source: Brain and Development - March 21, 2024 Category: Neurology Authors: Hirokazu Takeuchi, Norimichi Higurashi, Yurika Toga Tags: Original Article Source Type: research
Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center
Infantile epileptic spasm syndrome (IESS) includes both West syndrome (WS) and infants exhibiting epileptic spasms without meeting all WS criteria [1]. WS is characterized by infantile spasms (IS), hypsarrhythmia (an interictal electroencephalography (EEG) pattern with irregular, high-amplitude slow waves on a chaotic background), and neurodevelopmental delay (1). Manifesting in early infancy, WS often has a poor prognosis [2 –4]. The incidence of WS has been estimated to be 0.24 %-0.42 %, with a higher incidence in males [5,6]. (Source: Brain and Development)
Source: Brain and Development - March 16, 2024 Category: Neurology Authors: Merve Feyza Y üksel, Neslihan Doğulu, Miraç Yıldırım, Engin Köse, Ömer Bektaş, Fatma Tuba Eminoğlu, Serap Teber Tags: Original Article Source Type: research
A female case of L1 syndrome that may have developed due to skewed X inactivation
Heterozygous L1CAM variants cause L1 syndrome with hydrocephalus and aplasia/hypoplasia of the corpus callosum. L1 syndrome usually has an X-linked recessive inheritance pattern; however, we report a rare case occurring in a female child. (Source: Brain and Development)
Source: Brain and Development - March 12, 2024 Category: Neurology Authors: Tatsuo Mori, Mutsuki Nakano, Takahiro Tayama, Aya Goji, Yoshihiro Toda, Shinichi Kameyama, Takeshi Mizuguchi, Maki Urushihara, Naomichi Matsumoto Tags: Case Report Source Type: research
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(Source: Brain and Development)
Source: Brain and Development - March 6, 2024 Category: Neurology Source Type: research
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(Source: Brain and Development)
Source: Brain and Development - March 6, 2024 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - March 6, 2024 Category: Neurology Source Type: research
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C
Niemann –Pick type C (NPC) is a rare lysosomal storage disease characterized by hepatosplenomegaly and progressive neurological deterioration due to abnormal intracellular cholesterol transport. Cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPBCD) is an effective treatment for NPC; however, few reports have shown its long-term efficacy and safety. To demonstrate long-term efficacy and safety of intrathecal HPBCD (IT-HPBCD) treatment for NPC, we herein reports five patients with NPC treated using IT-HPBCD for 4–11 years. (Source: Brain and Development)
Source: Brain and Development - March 6, 2024 Category: Neurology Authors: Muneaki Matsuo, Takafumi Sakakibara, Yoshio Sakiyama, Tetsumin So, Motomichi Kosuga, Toshihiko Kakiuchi, Fumio Ichinose, Takuji Nakamura, Yoichi Ishitsuka, Tetsumi Irie Tags: Original Article Source Type: research
The muscle regeneration marker FOXP3 is associated with muscle injury in Duchenne muscular dystrophy
In Duchenne muscular dystrophy (DMD), the immune system cells (ISC) synthesize molecules to regulate inflammation, a process needed to regenerate muscle. The relationship between those molecules and the muscle injury is unknown. Monocytes belonging to ISC are regulated by omega-3 fatty acids ( ω-3 LCPUFAs) in DMD, but whether those fatty acids influence other ISC like T-cells is unknown. (Source: Brain and Development)
Source: Brain and Development - February 21, 2024 Category: Neurology Authors: Sthephanie Yannin Hern ández-de la Cruz, Thania Ordaz-Robles, Marco Antonio Villaldama-Soriano, Cristian Emmanuel Luna-Guzmán, Tomas Almeida-Becerril, Judith Villa-Morales, Alan Cárdenas-Conejo, Eugenia Dolores Ruíz-Cruz, Jorge Maldonado-Hernandez, Ma Source Type: research
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(Source: Brain and Development)
Source: Brain and Development - February 14, 2024 Category: Neurology Source Type: research
