Epileptic encephalopathy, early infantile panel

Genes: 

Sinonimo: 

MMPEI;MMPSI;MPEI;MPSI;Malignant migrating partial epilepsy of infancy;Migrating partial epilepsy of infancy;Migrating partial seizures of infancy

Tipo de test: 

Tiempo de espera: 

30 dias

Más información

Migrating partial epilepsy in infancy or early infantile epileptic encephalopathy, is a genetically heterogeneous neurological disorder, that it is associated with the occurrence of certain alleles in genes described and it may be autosomal recessive or autosomal dominant.
Because its prevalence in the population is low (less than 1/1.000.000) it is considered a rare disease. Also, is characterized by frequent tonic seizures or spasms that beginning in infancy.
Patients with this condition develop it before 6 months of age, and they may have seizures multifocal treatment resistance, characteristic EEG pattern (with independent and sequential seizures arising from both hemispheres). In addition, with the consequent development of the child, it is common the appearance of a period subsequent seizures and severe psychomotor retardation.
It has been observed in the cases described, considerable mortality of almost 28%, and at most survivors, delayed development and onset of other disorders such as ataxia.
Bioarray provides SCN1A CLCN2 and PLCB1 gene sequencing, which has enabled the early detection of disease in children to improve the speed of diagnosis at the initial stage of the disease.

Fuente: 

Tomado de GeneReviews

Prevalencia: 

1/1.000.000

Herencia: 

Autosomal dominant or autosomal recessive inheritance