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Difference between revisions of "Neuropathology"
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Jensflorian (talk | contribs) (→Malformation of cortical development(MCD): + Lissencephaly) |
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* Subtypes with different layering: 2-layered, 3-layered, and 4-layered forms. | * Subtypes with different layering: 2-layered, 3-layered, and 4-layered forms. | ||
* Heterotopic neurons in a pattern suggestive of laminar organization. | * 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=== | ||
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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== | ||