Classical Lissencephalies and Subcortical Band Heterotopias

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.)

Also Known As:

Agyria-Pachygyria-Band Spectrum; Chromosome 17p13.3 Deletion Syndrome; Classic Lissencephaly; Classical Lissencephaly Syndrome; Double Cortex Syndrome; Isolated Lissencephaly Sequence; Lissencephaly 1; Lissencephaly Sequence, Isolated; Lissencephaly Syndrome, Miller-Dieker; Lissencephaly Type 1; Lissencephaly, Classic; Lissencephaly, Miller-Dieker; Lissencephaly, X-Linked, 1; Miller-Dieker Lissencephaly Syndrome; Subcortical Laminar Heterotopia; Type 1 Lissencephaly; X-Linked Lissencephaly; 1, Lissencephaly; 1, Lissencephaly Type; 1s, Lissencephaly; 1s, Lissencephaly Type; Agyria Pachygyria Band Spectrum; Band Heterotopia, Lissencephaly-Subcortical; Classic Lissencephalies; Classical Lissencephalies; Classical Lissencephaly; Classical Lissencephaly Syndromes; Heterotopia, Lissencephaly-Subcortical Band; Heterotopia, Subcortical Laminar; Heterotopias, Lissencephaly-Subcortical Band; Heterotopias, Subcortical Band; Heterotopias, Subcortical Laminar; Lissencephalies, Classic; Lissencephalies, Type 1; Lissencephalies, X-Linked; Lissencephaly 1s; Lissencephaly Subcortical Band Heterotopia; Lissencephaly Syndrome, Classical; Lissencephaly Syndrome, Miller Dieker; Lissencephaly Syndromes, Classical; Lissencephaly Type 1s; Lissencephaly, Classical; Lissencephaly, Miller Dieker; Lissencephaly, X Linked; Lissencephaly-Subcortical Band Heterotopias; Miller Dieker Lissencephaly Syndrome; Miller Dieker Syndrome; Miller-Dieker Lissencephaly; Subcortical Band Heterotopias; Syndrome, Classical Lissencephaly; Syndrome, Double Cortex; Syndrome, Miller-Dieker; Syndrome, Miller-Dieker Lissencephaly; Syndromes, Classical Lissencephaly; Type 1 Lissencephalies; Type 1, Lissencephaly; Type 1s, Lissencephaly; X Linked Lissencephaly; X-Linked Lissencephalies; Heterotopia, Subcortical Band; Lissencephalies, Classical; Lissencephaly, Type 1; Lissencephaly, X-Linked; Lissencephaly-Subcortical Band Heterotopia; Miller-Dieker Syndrome; Subcortical Band Heterotopia

Nervous System Diseases: 14737
- Nervous System Malformations: 36
  - Malformations of Cortical Development: 383
    - Group II Malformations of Cortical Development: 62
      - Lissencephaly: 239
        Classical Lissencephalies and Subcortical Band Heterotopias: 125
      - Classical Lissencephalies and Subcortical Band Heterotopias: 125
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Nervous System Malformations: 36
    - Malformations of Cortical Development: 383
      - Group II Malformations of Cortical Development: 62
        Lissencephaly: 239
        Classical Lissencephalies and Subcortical Band Heterotopias: 125
        Classical Lissencephalies and Subcortical Band Heterotopias: 125
- Inborn Genetic Diseases: 12342
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Classical Lissencephalies and Subcortical Band Heterotopias: 125

A M Goffinet Selected Research

A M Goffinet Research Topics

Disease

Drug/Important Bio-Agent (IBA)