scholarly journals A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report

2020 ◽  
Vol 9 (5) ◽  
pp. 707-712
Author(s):  
Yan Xu ◽  
Bing-Bing Wu ◽  
Hui-Jun Wang ◽  
Shui-Zhen Zhou ◽  
Guo-Qiang Cheng ◽  
...  
Keyword(s):  
Case Report ◽  
Term Neonate ◽  
Gene Variants ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia

2012 ◽  
Vol 16 (5) ◽  
pp. 509-513 ◽  
Author(s):  
Raffaella Cusmai ◽  
Diego Martinelli ◽  
Romina Moavero ◽  
Carlo Dionisi Vici ◽  
Federico Vigevano ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

scholarly journals Spontaneous pneumomediastinum in a term neonate - case report

2017 ◽  
Vol 6 (2) ◽  
pp. 314-316 ◽  
Author(s):  
Gustavo Rocha ◽  
Hercília Guimarães
Keyword(s):  
Case Report ◽  
Term Neonate ◽  
Spontaneous Pneumomediastinum

scholarly journals Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy

2005 ◽  
Vol 53 (2) ◽  
pp. 235 ◽  
Author(s):  
Hamit Ozyurek ◽  
Guzide Turanli ◽  
Didem Aliefendioglu ◽  
Turgay Coskun
Keyword(s):  
Eeg Recordings ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

Post anoxic myoclonic encephalopathy syndrome or Lance- Adams: Case report

2021 ◽  
Vol 429 ◽  
pp. 119579
Author(s):  
Sandra Jurado López ◽  
Sandra Jurado López
Keyword(s):  
Case Report ◽  
Myoclonic Encephalopathy

KCNT1-Related Epilepsy: A Review

2021 ◽  
Author(s):  
Valeria Venti ◽  
Lina Ciccia ◽  
Bruna Scalia ◽  
Laura Sciuto ◽  
Carla Cimino ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Unexpected Death ◽  
Gain Of Function ◽  
Nocturnal Frontal Lobe Epilepsy ◽  
Ohtahara Syndrome ◽  
Sodium Dependent ◽  
Cardiac Disorders ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy ◽  
Genotype Correlation

Abstract KCNT1 gene encodes the sodium-dependent potassium channel reported as a causal factor for several different epileptic disorders. The gene has been also linked with cardiac disorders and in a family to sudden unexpected death in epilepsy. KCNT1 mutations, in most cases, result in a gain of function causing a neuronal hyperpolarization with loss of inhibition. Many early-onset epileptic encephalopathies related to gain of function of KCNT1 gene have been described, most often associated with two phenotypes: malignant migrating focal seizures of infancy and familial autosomal-dominant nocturnal frontal lobe epilepsy; however, there is no clear phenotype–genotype correlation, in fact same mutations have been represented in patients with West syndrome, Ohtahara syndrome, and early myoclonic encephalopathy. Additional neurologic features include intellectual disability, psychiatric disorders, hypotonia, microcephaly, strabismus, and movement disorders. Conventional anticonvulsant, vagal stimulation, and ketogenic diet have been used in the absence of clinical benefit in individuals with KCNT1-related epilepsy; in some patients, quinidine therapy off-label has been practiced successfully. This review aims to describe the characteristics of the gene, the phenotypes related to genetic mutations with the possible genotype–phenotype correlations and the treatments proposed to date, discussing the comorbidities reported in the literature.

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

Hemoglobin ◽  
2019 ◽  
Vol 43 (4-5) ◽  
pp. 292-295
Author(s):  
Hua Jiang ◽  
Fan Jiang ◽  
Jian Li ◽  
Fang Tang ◽  
Dong-Zhi Li
Keyword(s):  
Case Report ◽  
Hemolytic Anemia ◽  
Gene Variants

scholarly journals An unusual case of neonatal seizures as manifestation of asymptomatic maternal hypoparathyroidism

2019 ◽  
Vol 12 (8) ◽  
pp. e229160 ◽  
Author(s):  
Pragathi LK ◽  
Raja Kannan P ◽  
Manas Shanbhag
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Late Onset ◽  
Term Neonate ◽  
Metabolic Status ◽  
Neonatal Seizures ◽  
Birth History ◽  
Normal Birth ◽  
Neonatal Hypoparathyroidism

Neonatal hypoparathyroidism is one of the rare causes of hypocalcaemia. Several cases of neonatal hypoparathyroidism secondary to maternal hyperparathyroidism have been reported. In this case report, we have a term neonate with normal birth history who presented with late onset hypocalcemic seizures. After excluding polyendocrinopathies and related syndromes, hypocalcaemia seizures were secondary to maternal asymptomatic hypoparathyroidism. Since this is one variety of unusual case of maternal and fetal hypoparathyroidism, further testing was mandatory to confirm familial origin. This focuses on the need for every clinician to test maternal metabolic status in case of neonatal manifestations.

Case report: Bacillus cereus bacteraemia complicated by a brain abscess in a pre-term neonate

Pathology ◽  
2019 ◽  
Vol 51 ◽  
pp. S133-S134
Author(s):  
Harsha Samarasekara ◽  
Timothy Gilbey ◽  
Mohammed AlBawarshy ◽  
Catherine Janto ◽  
Vishnu Dasireddy ◽  
...  
Keyword(s):  
Case Report ◽  
Bacillus Cereus ◽  
Brain Abscess ◽  
Term Neonate

Extreme short bowel syndrome in a full-term neonate—a case report

2003 ◽  
Vol 38 (11) ◽  
pp. 1665-1666 ◽  
Author(s):  
Jeroen Heemskerk ◽  
George H Sie ◽  
Anita M Van den Neucker ◽  
Pierre-Philippe Forget ◽  
Erik Heineman ◽  
...  
Keyword(s):  
Case Report ◽  
Short Bowel Syndrome ◽  
Full Term ◽  
Term Neonate ◽  
Short Bowel
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