Published September 6, 2021
| Version v1
Dataset
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dataset related to article: "Severe epilepsy in CNTNAP2 related Pitt Hopkins like syndrome successfully treated with stiripentol"
Authors/Creators
- 1. Fondazione IRCCS Istituto Neurologico Carlo Besta
Description
Dataset contains Sanger Sequencing Analysis: .ab1 (H1235 CNTNAP2 ex22F.ab1, H1235 CNTNAP2 ex22R.ab1) NGS analysis: .vcf (H1235)
Notes
Study suported by Italian Ministry of Healt. Programma Ricerca Corrente LR2: Basi molecolari delle epilessie su base genetica: sviluppo di una piattaforma analitica genetica di nuova generazione per l'ottimizzazione dei processi di diagnosi e per l'identificazione di nuovi geni malattia e di terapie personalizzate
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Additional details
Related works
- Is supplement to
- Journal article: 10.1016/j.seizure.2021.04.012 (DOI)