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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias
... > Nervous System Diseases > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group II > Lissencephaly > Classical Lissencephalies and Subcortical Band Heterotopias
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group II > Lissencephaly > Classical Lissencephalies and Subcortical Band Heterotopias

Terme préférentiel

Classical Lissencephalies and Subcortical Band Heterotopias  

Type

  • mesh:Descriptor

Définition

  • Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)

Concept générique

Concepts associés

Synonyme(s)

  • Agyria-Pachygyria-Band Spectrum
  • Lissencephaly-Subcortical Band Heterotopia

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-P2542HMX-3

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RDF/XML TURTLE JSON-LD Date de création 09/07/2007, dernière modification le 10/10/2018