NEUROLOGICAL DISEASES, NEUROSCIENCE & MENTAL HEALTH

Epilepsy

Researchers in this group have a long history of research on epilepsy diseases, both in children and adults, with a common interest in delving into the pathophysiological bases of epilepsy, especially genetics, and in seizure and associated comorbidities management. The coordinator of this group is Dr. Susana Boronat, who is algos a member of the Scientific Board of the Dravet Syndrome Foundation.

Main research areas

  • Study of epileptic disorders, both in adulthood and childhood, specially genetic disorders.
  • Genotype-phenotype correlation in developmental and epileptic encephalopathies (DEE).
  • Status Epilepticus (SE) and Seizure Code: emergent treatment and neuropsychological outcome after SE.
  • Neuropsychological and psychiatric comorbidities in epilepsy.
  • Dravet Syndrome: natural history. Comorbidities

Ongoing clinical trials

  • ETX-DS-001 (Encoded Therapeutics, Inc. Epilog): Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies (ENVISION).
  • NBI-921352-DEE2012 (Neurocrine Biosciences, Inc.): Study to Evaluate NBI-921352 as Adjunctive Therapy in Subjects With SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE).
  • AMZ002-002 (Amzell, B.V.): A Study to Evaluate Safety and Efficacy of AMZ002 Treatment, Compared With Vigabatrin in Participants With Infantile Spasms.
  • 1042-TSC-3001 (Marinus Pharmaceuticals Inc.): Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy (TrustTSC) (TrustTSC).
  • 40411813EPY2001 (Janssen Research & Development): A Study to Investigate JNJ-40411813 in Combination With Levetiracetam or Brivaracetam in Epilepsy

Challenges

  • Genotype-phenotype correlation in developmental and epileptic encephalopathies (DEE).
  • Precision medicine in epilepsy.

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