Neuropediatrics 2016; 47 - P01-07
DOI: 10.1055/s-0036-1583616

Study Group: Personalized Therapy in Rare Pediatric Epilepsies

C. von Stülpnagel-Steinbeis 1, 2, C. Betzler 1 G. Kluger 1, 2PTIRPE - Study Group
  • 1Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany
  • 2Paracelsus Medical University Salzburg, Salzburg, Austria

Background: In infants and toddlers there are more than one hundred rare diseases (“orphan diseases”) with epileptic seizures or epileptic encephalopathies for which a genetic background as etiology is more and more often found. Due to the rareness of the diseases there is a lack of published data concerning the broad characteristics of these epilepsies and above all of their anticonvulsive treatment.

Methods: Due to this fact the “Personalized Therapy In Rare Pediatric Epilepsies-Study Group (PTIRPE-SG)” was initiated by clinical epileptologists 10 years ago. The primary aim was the international exchange of experiences (retrospective, anonymized) concerning the epilepsies of these rare diseases.

Results: At the moment in the PTIRPE-SG (more than 350 members from 12 countries) 130 “orphan diseases” (caused by single gene mutations, numeric or structural chromosome anomalies, metabolic diseases or etiological still unclear syndromes) with epileptic seizures are examined. Besides the question for a special anticonvulsive therapy, the study group in cooperation with other researcher teams and self-help groups is also interested in different clinical and scientific questions. So far large collectives of patients with CDKL5-, PCDH19-, SYNGAP1-, SCN2A-, FOXG1-mutations and Nikolaides-Baraitser syndrome could be collected. Currently, “personalized” therapies with quinidine in KCNT1-mutations, memantine in GRIN2A/2D-mutations, and 4-aminopyridin in KCNA2-mutations are examined.

Discussion: PTIRPE-SG enables the fast, international exchange concerning the therapeutic experiences in rare diseases with often pharmacoresistant epilepsies. In cooperation with other groups, special therapeutic strategies can be evaluated.