Ohtahara syndrome panel



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Ohtahara syndrome is a clinical manifestation that is present in a heterogeneous group of epileptic encephalopathies.

Specifically, Ohtahara syndrome is the most severe variant of earlier-onset epileptic encephalopathies. The disease usually begins to manifest during the neonatal period or within a few months.

Ohtahara syndrome is characterized by the frequent occurrence of tonic seizures or spasms, which arise in childhood, during periods of sleep or wakefulness. EEG has a specific pattern, which shows peaks of high voltage discharge, alternating with periods of almost flat suppression. It has been observed that about 75% of individuals affected, progressing to a West syndrome phenotype characterized by a hypsarrythmic EEG, presence of tonic spasms and delayed psychomotor development.

Ohtahara syndrome is associated with alterations in a wide array of genes. Mutations have been reported in ARX (Xp21.3); CACNA2D2 (3p21.31), KCNQ2 (20q13.33); PLCB1 (20p12.3); SCN2A (2q24.3); SCN8A (12q13.13), SLC25A22 (11p15 .5); SPTAN1 (9q34.11) and STXBP1 (9q34.11). All of them are listed in our panel NGS.

The type of inheritance and prevalence of the disorder depends on the gene affected.


Tomado de GeneReviews