Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Author Information
Author(s): Depienne Christel, Bouteiller Delphine, Keren Boris, Cheuret Emmanuel, Poirier Karine, Trouillard Oriane, Benyahia Baya, Quelin Chloé, Carpentier Wassila, Julia Sophie, Afenjar Alexandra, Gautier Agnès, Rivier François, Meyer Sophie, Berquin Patrick, Hélias Marie, Py Isabelle, Rivera Serge, Bahi-Buisson Nadia, Gourfinkel-An Isabelle, Cazeneuve Cécile, Ruberg Merle, Brice Alexis, Nabbout Rima, LeGuern Eric
Primary Institution: AP-HP, Département de Génétique et Cytogénétique, Fédération de Génétique, Hôpital de la Salpêtrière, Paris, France
Hypothesis
Genomic micro-rearrangements might be found in a subset of SCN1A-negative patients with Dravet syndrome, thus identifying new causal genes.
Conclusion
Mutations in PCDH19 can cause an early and severe epileptic encephalopathy mimicking Dravet syndrome, affecting mainly females.
Supporting Evidence
- PCDH19 mutations were found in 12 out of 74 patients with clinical features compatible with Dravet syndrome.
- Eleven of the patients with PCDH19 mutations were females.
- The only affected male was mosaic for the PCDH19 deletion.
- Patients with PCDH19 mutations had similar clinical features to those with SCN1A mutations.
- PCDH19-DS patients were slightly older at seizure onset than SCN1A-DS patients.
Takeaway
This study found that a gene called PCDH19 can cause a type of epilepsy that mostly affects girls, and even some boys can be affected if they have a special condition.
Methodology
The study used SNP microarrays to search for genomic rearrangements in patients with clinical features suggestive of Dravet syndrome but without mutations in SCN1A.
Limitations
The study primarily focused on SCN1A-negative patients, which may not represent all cases of Dravet syndrome.
Participant Demographics
The study included 74 probands (45 females and 29 males) referred for genetic analysis of Dravet syndrome.
Statistical Information
P-Value
p<0.0001
Statistical Significance
p<0.0001
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website