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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
Known as:
EIEE21
National Institutes of Health
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Related topics
Related topics
3 relations
Autosomal recessive inheritance
Decreased fetal movement
Epileptic encephalopathy
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2019
2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21
T. Mizuguchi
,
M. Nakashima
,
+8 authors
N. Matsumoto
Journal of Human Genetics
2019
Corpus ID: 58005103
We report the second case of early infantile epileptic encephalopathy (EIEE) arising from a homozygous truncating variant of…
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