Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic ®ndings in comparison with females
نویسندگان
چکیده
Maria Daniela D'Agostino,1,2 Andrea Bernasconi,1 Soma Das,5 Alexandre Bastos,1 Rosa M. Valerio,1,10 Andre Palmini,11 Jaderson Costa da Costa,11 Ingrid E. Scheffer,13 Samuel Berkovic,1,13 Renzo Guerrini,14 Charlotte Dravet,15 Jiro Ono,16 GianLuigi Gigli,17 Antonio Federico,18 Fran Booth,4 Bruno Bernardi,19 Lilia Volpi,19 Carlo Alberto Tassinari,19 Mary Anne Guggenheim,6 David H. Ledbetter,5 Joseph G. Gleeson,7 Iscia Lopes-Cendes,12 David G. Vossler,8 Elisabetta Malaspina,20 Emilio Franzoni,20 Roberto J. Sartori,9 Michael H. Mitchell,9 Suha Mercho,1 FrancËois Dubeau,1 Frederick Andermann,1,3 William B. Dobyns5 and Eva Andermann1,2
منابع مشابه
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Subcortical band heterotopia (SBH) or double cortex syndrome is a neuronal migration disorder, which occurs very rarely in males: to date, at least 110 females but only 11 in males have been reported. The syndrome is usually associated with mutations in the doublecortin (DCX) (Xq22.3-q23) gene, and much less frequently in the LIS1 (17p13.3) gene. To determine whether the phenotypic spectrum, th...
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Subcortical band heterotopia (SBH) or double cortex is associated with significant impairments in neocortical function including mental retardation and epilepsy. Mutant alleles of DCX in humans typically cause SBH in females and lissencephaly in males, whereas Dcx null mutations in mice neither disrupt neocortical neuronal migration nor cause SBH formation. In utero RNA interference (RNAi) of D...
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We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They acco...
متن کاملAdvanced structural multimodal imaging of a patient with subcortical band heterotopia
Subcortical band heterotopia (SBH) is a disorder of neuronal migration most commonly due to mutations of the Doublecortin (DCX) gene. A range of phenotypes is seen, with most patients having some degree of epilepsy and intellectual disability. Advanced diffusion and structural magnetic resonance imaging (MRI) sequences may be useful in identifying heterotopias and dysplasias of different sizes ...
متن کاملLinkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
While disorders of neuronal migration are associated with as much as 25% of recurrent childhood seizures, few of the genes required to establish neuronal position in cerebral cortex are known. Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration disorders producing epilepsy and variable cognitive impairment, can be inherited alone or together in a single p...
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تاریخ انتشار 2002