Table 1 Overview on screened patients
From: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Patient samples used in this study | Sequencing of NRXN1 number of patients | Sequencing of CNTNAP2 number of patients | Molecular karyotyping number of patients |
|---|---|---|---|
1. new screening sample, n = 90 | 90 | 90, including C1-C4 | 22, including N1 |
2. old screening sample[26], n=179 | published [26], results not used in this study | published [26], results not used in this study | 23, not published before |
3. specific testing sample* | 9 | 9 | |
4. NRXN1/CNTNAP2 deletion group** | 5, N2-N6 | 3, C5-C7 | 8, (details on arrays see Table 3) |