Band heterotopia (BH) is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms vary in severity of intellectual disability and may be associated with epileptic disorders. It has been reported that mutations in EML1 cause this disease. The EML1 protein is a member of the microtubule-associated proteins family, playing an important role in microtubule assembly and stabilization as well as in mitotic spindle formation in interphase.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02785 Band heterotopia
Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS
Title
The genetic landscape of familial congenital hydrocephalus.
