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==Malformation of cortical development(MCD) == | ==Malformation of cortical development(MCD) == | ||
===Lissencephaly=== | |||
* Greek: ‘lissos': smooth and ‘enkephalos': brain. | |||
* Absent (agyria) or decreased (pachygyria) convolutions. | |||
* Cortical thickening | |||
* Smooth cerebral surface | |||
* Subtypes with different layering: 2-layered, 3-layered, and 4-layered forms. | |||
* Heterotopic neurons in a pattern suggestive of laminar organization. | |||
* 14 LIS mutations account for 90% of all cases.<ref name="pmid27781032">{{cite journal |authors=Parrini E, Conti V, Dobyns WB, Guerrini R |title=Genetic Basis of Brain Malformations |journal=Mol Syndromol |volume=7 |issue=4 |pages=220–233 |date=September 2016 |pmid=27781032 |pmc=5073505 |doi=10.1159/000448639 |url=}}</ref> | |||
===Polymicrogyria=== | ===Polymicrogyria=== | ||
* Abnormal cortical lamination. | * Abnormal cortical lamination. | ||
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** Unlayered: Unorganized radial distribution of neurons. | ** Unlayered: Unorganized radial distribution of neurons. | ||
** Four-layered: Molecular layer, outer neuronal layer, nerve fiber layer, and inner neuronal layer. | ** Four-layered: Molecular layer, outer neuronal layer, nerve fiber layer, and inner neuronal layer. | ||
* 1q trisomy in unilateral cases.<ref name="pmid32979071">{{cite journal | | * 1q trisomy in unilateral cases.<ref name="pmid32979071">{{cite journal |authors=Kobow K, Jabari S, Pieper T, Kudernatsch M, Polster T, Woermann FG, Kalbhenn T, Hamer H, Rössler K, Mühlebner A, Spliet WGM, Feucht M, Hou Y, Stichel D, Korshunov A, Sahm F, Coras R, Blümcke I, von Deimling A |title=Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay |journal=Acta Neuropathol |volume=140 |issue=6 |pages=881–891 |date=December 2020 |pmid=32979071 |doi=10.1007/s00401-020-02228-5 |url=}}</ref> | ||
==Epilepsy== | ==Epilepsy== | ||