3-PGDH Deficiency, Seizures, and Microcephaly
نویسندگان
چکیده
منابع مشابه
ASPM mutations identified in patients with primary microcephaly and seizures.
BACKGROUND Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. Here, we report a pedigree with multiple affected ...
متن کاملShort reports 5p14 deletion associated with microcephaly and seizures
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion pre...
متن کاملAssociation between iron deficiency and febrile seizures.
OBJECTIVE The relationship between iron status and febrile seizures has been examined in various settings, mainly in the Developing World, with conflicting results. The aim of this study was to investigate any association between iron deficiency and febrile seizures (FS) in European children aged 6-60 months. DESIGN Prospective, case-control study. SETTING Greek population in Thessaloniki. ...
متن کاملIron deficiency, febrile seizures and brain development.
Iron deficiency anemia is one of the most prevalent micronutrient deficiencies in young children in India and other parts of the world, and it is strongly associated with persistent cognitive and motor delays even after the anemia and iron deficit have been repaired. Madan, et al. [1] reported recently that children aged 6-23 months with moderate to severe iron deficiency anemia had lower menta...
متن کاملIs omega-3 fatty acid deficiency a factor contributing to refractory seizures and SUDEP? A hypothesis
Epilepsy, the commonest serious neurological condition, is associated with an increased risk in premature deaths, including an estimated 500 sudden unexpected deaths (SUDEP) per year in the UK. In some patients seizures are associated with cardiac arrhythmias, which are thought to be a major factor in SUDEP. Omega-3 fatty acids have been shown to reduce cardiac arrhythmias in animal studies and...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1998
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-12-9-4