Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Item
http://www.wikidata.org/entity/Q41929246
Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage responseMutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.The genetics of the epilepsies.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1.Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.BRAT1 mutations present with a spectrum of clinical severity.Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
P2860

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Item
http://www.wikidata.org/entity/Q41929246
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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name
Compound heterozygous BRAT1 mu ...... h hypertonia and microcephaly.
@en
type
label
Compound heterozygous BRAT1 mu ...... h hypertonia and microcephaly.
@en
prefLabel
Compound heterozygous BRAT1 mu ...... h hypertonia and microcephaly.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Compound heterozygous BRAT1 mu ...... h hypertonia and microcephaly.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921