No abstract available
Keywords:
EIEE; Health care efficiency; KCNQ-2; Ohtahara syndrome; Rapid whole genome sequencing.
MeSH terms
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Early Diagnosis
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Genetic Testing
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Humans
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Infant, Newborn
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KCNQ2 Potassium Channel / genetics*
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Mutation, Missense*
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Spasms, Infantile / diagnosis*
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Spasms, Infantile / drug therapy*
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Spasms, Infantile / economics
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Spasms, Infantile / genetics
Substances
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KCNQ2 Potassium Channel
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KCNQ2 protein, human
Supplementary concepts
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Infantile Epileptic-Dyskinetic Encephalopathy