A challenging case of epilepsy in infancy with migrating focal seizures due to a de novo KCNT1 missense variant (c.1438G>A, p.Asp480Asn)
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY(2024)
Key words
De novo KCNT1 missense variant(c.1438G>A,,p.Asp480Asn),Epilepsy in infancy with migrating focal,seizures,KCNT1-related epilepsy,Long-term v-EEG monitoring,Paralytic ileus,Whole exome sequencing
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