SUMMARY An eight‐month‐old infant developed autonomic seizures, manifested by skin reaction (harlequin‐like syndrome) and paroxysmal bradycardia. Interictal EEG showed multifocal spikes. 24‐hour EEG/ECG monitoring disclosed episodes of cerebral decremental response associated with cardiac nodal rhythm. Head CT and other laboratory tests were normal. Despite excellent seizure control with carbamazepine, the child has moderate psychomotor retardation. RÉSUMÉ Crises sympathiques chez un nourrisson: manifestations cutanées et cardiaques inhabituelles Un nourrisson de huit mois a présenté des crises sympathiques, traduites par une réaction cutanée (syndrome d'Arlequin) et une bradycardie paroxystique. L'EEG intercritique montra des pointes multifocales. Un enregistrement EEG/ECG sur 24 heures révéla des réponses cérébrales de ralentissement associées à un rythme cardiaque nodal. Le scanner céphalique et les autres examens de laboratoire étaient normaux. En dépit d'un excellent contrôle des crises par carbamazepine, l'enfant a un retard psychomoteur modéré. ZUSAMMENFASSUNG Autonome Anfälle bei einem Säugling: ungewöhnliche Haut‐ und Herzmanifestationen Ein acht Monate alter Säugling entwickelte autonome Anfälle, manifestiert durch Hautreaktionen (Harlequin Syndrom) und paroxysmale Bradicardien. Das interiktal abgeleitete EEG zeigte multifokale Spikes. Die 24 Stunden Überwachung von EEG und EKG zeigte Episoden verminderter cerebraler Aktivität bei gleichzeitigem AV‐Block. Die Computertomogramme des Kopfes und die Laboruntersuchungen waren normal. Trotz sehr guter medikamentöser Einstellung hatte das Kind eine mäz̀ige psychomotorische Retardierung. RESUMEN Crisis autonómicas en un lactante: manifestaciones cardiacas y cutáneas inusuales Un lactante de ocho meses de edad sufrió crisis autonómicas que se manifestaban por reacciones cutáneas (sindrome de tipo Arlequin) y bradicardia paroxística. El EEG intercrítico mostraba puntas multifocales. Un EEG/ECG monitorizado durante 24 horas puso de manifesto episodios de decreción de respuesta cerebral en asociación con un ritmo cardiaco nodal. La TAC cerebral y otras exploraciones fueron normales. A pesar de un excelente control de las convulsiones con carbamacepina el niño tenía un retraso psicomotor moderado.

Genetic Epilepsy (previously known as idiopathic epilepsy) is a result of a known or presumed genetic defect(s) that is not causative of a brain structural or metabolic disorder. Objectives: Genetic epilepsy with febrile seizures plus is characterized by multiple febrile seizures and by several subsequent types of afebrile generalized seizures with variable degrees of severity. It has a complex and heterogeneous clinical presentation. Dravet Syndrome (DS) is a catastrophic early-life epilepsy disorder of the GEFS plus spectrum in which the seizures are usually refractory to treatment and are associated with intellectual disability. The detection rate of gene variants has gradually increased, and in addition to providing an accurate diagnosis, elucidating the genetic cause of paediatric-onset drug-resistant epilepsy can also help guide clinical management. Method: Here, we selected cases with febrile seizures on presentation who later developed epilepsy, and evaluated those using genetic studies. Results: The genes SCN1A, ADGRV2, GABBR2, and GPR98 as potential causes of GEFS (+) and Dravet syndrome have been highlighted in our report. Conclusion: An improved understanding of the true physiopathology of genetic epilepsy and the identification of factors that are involved in phenotypic variations, will make it easier to understand genotype-phenotype correlations in the future and help implement individualized precision medical treatment regimens.