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Defectos de los canales de sodio en las convulsiones neonatal-infantiles benignas y familiares
Sarah E Heron1, Kathryn M Crossland, Eva Andermann
1Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia. sheron@bionomics.com.au
Lancet (London, England)
|September 24, 2002
Resumen
Las mutaciones en el gen del canal de sodio SCN2A causan un nuevo síndrome de epilepsia, ataques benignos familiares neonatal-infantiles. Este descubrimiento identifica una causa genética para las convulsiones de la primera infancia, que anteriormente carecía de una explicación molecular.
Área de la Ciencia:
- Genética La genética.
- Neurología Neurología.
- Biología Molecular Biología Molecular
Sus antecedentes:
- Los defectos genéticos de los canales iónicos están relacionados con trastornos paroxísticos, incluidos los síndromes de epilepsia monogénica.
- Existen dos síndromes de epilepsia autosómica dominante de inicio temprano: las convulsiones neonatales familiares benignas (defectos de los canales de potasio) y las convulsiones infantiles familiares benignas (genes desconocidos).
Objetivo del estudio:
- Para identificar la causa genética de un síndrome de epilepsia clínicamente intermedio, las convulsiones neonatal-infantiles benignas familiares.
- Para establecer una correlación clínico-molecular para este nuevo síndrome de epilepsia.
Principales métodos:
- Evaluación clínica de pacientes con convulsiones neonatal-infantiles benignas y familiares.
- El análisis genético se centra en los genes de la subunidad del canal de sodio, específicamente SCN2A.
Principales resultados:
- Se identificaron mutaciones en el gen SCN2A de la subunidad del canal de sodio en pacientes con convulsiones benignas familiares neonatal-infantiles.
- Este hallazgo establece que las mutaciones SCN2A son la causa de este síndrome específico de epilepsia.
Conclusiones:
- Un nuevo síndrome de epilepsia familiar benigna, las convulsiones neonatal-infantiles benignas familiares, se define por las mutaciones SCN2A.
- Este descubrimiento proporciona una base molecular para las convulsiones de la primera infancia, un período a menudo asociado con un mal pronóstico.
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