Abstract:
BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknown genetic etiology of the youngest brother by whole exome sequencing. RESULTS:The youngest brother of this family presented with developmental regression, dystonia, epilepsy, microcephaly, visual impairment and oromotor dysfunction. Hyperlactataemia, raised alanine and muscle complex IV deficiency indicated that he had mitochondrial dysfunction. Likely pathogenic hemizygous missense ARX variants (c.989G > A; p.Arg330His) located in conserved nuclear localization sequence was identified. The variant was carried by his asymptomatic mother and not found in his asymptomatic third elder brother. The intractable seizures showed complete but transient responsiveness to pyridoxal phosphate and finally controlled by valproate treatment. CONCLUSION:This is the first case of ARX-associated encephalopathy showing mitochondrial dysfunction and transient responsiveness to pyridoxal phosphate treatment.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kwong AK,Chu VL,Rodenburg RJT,Smeitink J,Fung CWdoi
10.1016/j.braindev.2019.07.003subject
Has Abstractpub_date
2019-11-01 00:00:00pages
883-887issue
10eissn
0387-7604issn
1872-7131pii
S0387-7604(19)30180-9journal_volume
41pub_type
杂志文章abstract::Two siblings, male and female, with identical lethal brain malformation are described. Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. Brainst...
journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
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更新日期:1996-07-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
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更新日期:2017-08-01 00:00:00
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更新日期:2013-03-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80009-1
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journal_title:Brain & development
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更新日期:2020-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2015-08-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2003-06-01 00:00:00
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journal_title:Brain & development
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更新日期:2013-10-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2012-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:1999-01-01 00:00:00
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journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.04.009
更新日期:2020-09-01 00:00:00