Abstracts

Rationale: Neonatal Infantile seizures are described in literature as a spectrum depending on different phenotypic and genotypic manifestations. With expanding molecular diagnostics multiple gene mutations have been identified as the cause for the varying symptoms. The case being presented focuses on the combination of epilepsy and movement disorders and highlights the complexity of neonatal infantile seizure spectrum. Methods: Case:  A 2 month old male with a normal perinatal history and neurodevelopment, presented with explosive onset of multiple focal seizures requiring an initial PICU stay. The patient was started on Levetiracetam but after a seizure free period of 1 year, medication was weaned. At 2 years of age the patient developed new onset abnormal movements including an upper extremity tremor as well as an ataxic gait, which was worse upon awakening and progressively improved as the day progressed. A family history is significant for hemiplegic migraines in true biological father. Maternal grandfather had afebrile seizures in childhood.  A complete workup was performed including a skeletal survey, a CSF profile, glucose levels,  Brain MRI chromosome Karyotyping and an SNP array which all proved to be negative. Due to the cluster of specific phenotypic manifestations a molecular sequencing targeting for the proline rich repeat protein 2 (PRRT2) genes was performed which was negative. Further genetic tests, an epilepsy triome sequencing panel was completed which was informative. Results:   Conclusions: This case helps demonstrate the complexity of the Neonatal Infantile Seizure Spectrum . The benign neonatal spectrum of epilepsies can be divided into at least 5 clinical subtypes based on age of onset and genotypic and phenotypic variations.  The patient’s symptoms was most consistent with the disease entity of Benign Familial Infantile Seizures (BFIS) associated with Paroxysmal kinesigenic Dyskinesia(PKD). The epileptic and non- epileptic movement disorder spectrum can be due to synaptopathies, channelopathies, or transportopathies. (Please see attached tables ). Further genetic epilepsy sequencing panel and continued clinical follow up was valuable in providing additional information to this family. Being aware of the symptomology not only makes practitioners aware of the disease spectrum and the genetic complexity of neonatal infantile seizures but possibly can change the way certain testing is conducted in a more streamlined manner to avoid unnecessary testing and also consider early genetic testing . Funding: none