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Pathogenic variants in DCX on the X chromosome lead to lissencephaly and subcortical band heterotopia (SBH), brain malformations caused by neuronal migration defects. Its product doublecortin (DCX) binds to microtubules… Click to show full abstract
Pathogenic variants in DCX on the X chromosome lead to lissencephaly and subcortical band heterotopia (SBH), brain malformations caused by neuronal migration defects. Its product doublecortin (DCX) binds to microtubules to modulate microtubule polymerization. How pathogenic DCX variants affect these activities remains not fully investigated.
Keywords:
variants terminal;
novel lissencephaly;
dcx;
associated dcx;
dcx variants;
lissencephaly associated
Journal Title: Epilepsia
Year Published: 2022
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Journal Title: Epilepsia
Year Published: 2022
Link to full text (if available)
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recommendations!