Key result
Multiplex ligation-dependent probe amplification identified submicroscopic deletions or duplications of KCNQ2 in 44% (4 of 9) of BFNS families previously testing negative for conventional mutations.
Why the study?
Can multiplex ligation-dependent probe amplification (MLPA) identify pathogenic intragenic mutations in KCNQ2 in patients with benign familial neonatal seizures?
Population
n=21 unrelated patients with clinical features consistent with either benign familial neonatal seizures…
Design
Cohort
Authors
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May expand KCNQ2 diagnostic yield in BFNS; leaves open routine adoption without larger validation studies.
Observational (n=21)
Can multiplex ligation-dependent probe amplification (MLPA) identify pathogenic intragenic mutations in KCNQ2 in patients with benign familial neonatal seizures?
MLPA is an efficient second-tier testing strategy to identify pathogenic KCNQ2 deletions or duplications in patients with benign familial neonatal seizures who test negative by conventional sequencing.
Heron et al. (2007) conducted an observational in Benign familial neonatal seizures (n=21). Multiplex ligation-dependent probe amplification (MLPA) was evaluated on Identification of exonic deletions and duplications in KCNQ2. Multiplex ligation-dependent probe amplification identified submicroscopic deletions or duplications of KCNQ2 in 44% (4 of 9) of BFNS families previously testing negative for conventional mutations.