Lissencephaly 1 (LIS1)

Alias:

Subcortical Laminar Heterotopia

Classic Lissencephaly

Lis1

Lissencephaly Due to Lis1 Mutation

Lissencephaly Type 1

Lissencephaly Sequence, Isolated

Pafah1b1-Related Lissencephaly

Subcortical Band Heterotopia

Classical Lissencephaly

Lissencephaly, Classic

Lissencephaly-1

Double Cortex

Ils

Isolated Lissencephaly Sequence

Lissencephaly Syndrome Type 1

Lissencephaly, Type 1

Type 1 Lissencephaly

Type I Lissencephaly

Sclh

Sbh

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lissencephaly 1, also known as subcortical laminar heterotopia, is related to lissencephaly, x-linked, 1 and lissencephaly 10. An important gene associated with Lissencephaly 1 is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. The drugs Prednisolone and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include cortex and brain, and related phenotypes are seizure and infantile spasms

Related ID：

MALACARDS：LSS005

OMIM：607432

MESH：D054082