Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

  title={Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.},
  author={Carlos Cardoso and Amber Boys and Elena Parrini and C{\'e}cile Mignon-Ravix and Jacinta M Mcmahon and Sabrina Khantane and Enrico Bertini and E Pallesi and Chantal Missirian and Orsetta Zuffardi and Francesca Novara and Laurent Villard and Sabrina Giglio and Brigitte Chabrol and Howard Robert Slater and Anne Moncla and Ingrid E. Scheffer and Renzo Guerrini},
  volume={72 9},
BACKGROUND Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARFGEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly… CONTINUE READING
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Deletion of chromosome 1 p 36 is associated with periventricular nodular heteroto

  • RJ Ferland, JN Gaitanis, K Apse
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