Entry |
|
Name |
Complex cortical dysplasia with other brain malformations |
Description |
Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations associated with mutations in tubulin and motor proteins of the kinesin genes has been reported.
|
Category |
Congenital malformation
|
Brite |
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of the nervous system
H01881 Complex cortical dysplasia with other brain malformations
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA05 Cerebral structural developmental anomalies
H01881 Complex cortical dysplasia with other brain malformations
 |
Gene |
|
Other DBs |
|
Reference |
|
Authors |
Fallet-Bianco C, Laquerriere A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonniere M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N |
Title |
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. |
Journal |
|
Reference |
|
Authors |
Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T |
Title |
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. |
Journal |
|
Reference |
|
Authors |
Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J |
Title |
Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. |
Journal |
|
Reference |
|
Authors |
Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E |
Title |
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. |
Journal |
|
Reference |
|
Authors |
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakcalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG |
Title |
Biallelic loss of human CTNNA2, encoding alphaN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. |
Journal |
|
LinkDB |
 |
|