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Brain and Development Case Reports is a peer-reviewed journal published by Elsevier, covering Epilepsy research and treatment, Infectious Encephalopathies and Encephalitis, Genetics and Neurodevelopmental Disorders.
| Publisher | Elsevier |
|---|---|
| Reference style | Numbered (Elsevier) Numbered — [1], [2] in the text [1] A. Smith, B. Jones, C. Lee, A representative article title, Brain and Development Case Reports 12 (2023) 45–58.
Formats any DOI in Brain and Development Case Reports style. No sign-up. |
| Publishes research in | Epilepsy research and treatment Infectious Encephalopathies and Encephalitis Genetics and Neurodevelopmental Disorders Metabolism and Genetic Disorders Peripheral Neuropathies and Disorders |
| ISSN | 2950-2217 |
| Citation impact (2-yr) | 0.24 |
| h-index | 3 |
| Total citations | 34 |
| Top institutions publishing here | National Center For Child Health and Development |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Biotinidase (E.C. 3.5.1.12) is an enzyme which recycles biotin, a coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. Biotinidase deficiency (OMIM #253260) causes a reduction in free biotin leading to multiple carboxylase deficiency. In its severe form, children may have seizures, delayed development, respiratory issues, cutaneous manifestations, hearing and…
Abstract Patientis with myasthenia gravis (MG) are at increased risk of other autoimmune disorders, such as systemic lupus erythematosus (SLE). The neonatal Fc receptor (FcRn) antagonist, efgartigimod alfa (EFG-α), is effective in generalized MG (gMG) by a mechanism that decreases levels of IgG, including pathological autoantibodies. Although approved in Japan for gMG in 2022, its…
This report explores a rare case of musical disability, highlighting the profound impact it can have on an individual's life. Because of the necessity of a medical note for school, a 21-year-old right-handed man received an evaluation at our institute for his musical abilities, which have been severely impaired since birth. He complained about a…
TMEM63B encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous TMEM63B variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a TMEM63B variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel…
Familial hemiplegic migraine (FHM) is a subtype of migraine with three identified causative genes: CACNA1A , ATP1A2 , and SCN1A . However, diagnosis and treatment of FHM are challenging because of the wide phenotypic variation. We describe a family with genetically diagnosed CACNA1A -related FHM1 in which the proband presented with acute encephalopathy-like symptoms. The…
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