Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
rs398122394 in
ALG13 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
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PMID 25732998 2015 Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.
PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
PMID 22492991 2012 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
PMID 24781210 2014 The genetic landscape of infantile spasms.