Epileptic encephalopathy and brain iron accumulation due to WDR45 mutation
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چکیده
منابع مشابه
Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
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R. Singh , S. Jayapal , S. Goyal , H. Jungbluth , K. Lascelles * Department of Paediatric Neurology, Evelina Children’s Hospital, Guys and St Thomas’ NHS Foundation Trust, United Kingdom Neurophysiology Department, Evelina Children’s Hospital, Guys and St Thomas’ NHS Foundation Trust, United Kingdom Randall Division of Cell and Molecular Biophysics, King’s College London, United Kingdom Departm...
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BACKGROUND Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes. METHODS We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus. RESULTS This case report provides electroencephalogram (EEG), MRI, genetic analy...
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Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ =...
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Pain is neuroanatomically, psychologically and neurophysiologically complicated and its first function is protecting all alive creature body. This issue is so questionable and interesting that people who don’t feel pain how face this sensation and what problems threaten them. So many researchers by using 73 references, articles from electronical and library references have done a clinical...
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ژورنال
عنوان ژورنال: Seizure
سال: 2019
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2019.08.002