VLDLR, WDR62, and TUBA1A genes. One may some-times suggest the most likely gene mutation upon MRI findings when some specific features are seen, although image findings overlap among the causative gene mutations. A 1-year-old boy presented with intractable epi-lepsy, developmental delay and microcephalus. Brain MRI revealed lissencephaly with severe dysplasia of the cerebellum and brainstem. Diffusion tensor imaging (DTI) visualized radially aligned structures within the cortex, which is not observed in normal brain after birth (Fig. 1). Combination of severe posterior fossa abnormalities with lissencephaly sug-gested TUBA1A as the most likely responsible gene mutation. Mutation analysis of TUBA1A gen
Doublecortin (DCX) mutations cause abnormal development of the DCX protein that normally aids in neu...
International audienceObjective: With the largest data set of patients with LIS1-related lissencepha...
BackgroundThe TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, ...
Mutations in the alpha-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformat...
We previously showed that mutations in LIS1 and DCX account for similar to 85% of patients with the ...
We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a h...
We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a h...
International audienceLissencephalies are congenital malformations responsible for epilepsy and ment...
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and peris...
Malformations of the cerebral cortex are an important cause of developmental disabilities and epilep...
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alp...
Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development,...
Background. Lissencephaly (LIS) is a spectrum of malformations of the cerebral cortex that occur as ...
Migration of post-mitotic neurons from the ventricular zone to the cortical plate during embryogenes...
Lissencephaly comprises a spectrum of cortical malformations caused by disruption of neuronal migrat...
Doublecortin (DCX) mutations cause abnormal development of the DCX protein that normally aids in neu...
International audienceObjective: With the largest data set of patients with LIS1-related lissencepha...
BackgroundThe TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, ...
Mutations in the alpha-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformat...
We previously showed that mutations in LIS1 and DCX account for similar to 85% of patients with the ...
We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a h...
We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a h...
International audienceLissencephalies are congenital malformations responsible for epilepsy and ment...
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and peris...
Malformations of the cerebral cortex are an important cause of developmental disabilities and epilep...
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alp...
Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development,...
Background. Lissencephaly (LIS) is a spectrum of malformations of the cerebral cortex that occur as ...
Migration of post-mitotic neurons from the ventricular zone to the cortical plate during embryogenes...
Lissencephaly comprises a spectrum of cortical malformations caused by disruption of neuronal migrat...
Doublecortin (DCX) mutations cause abnormal development of the DCX protein that normally aids in neu...
International audienceObjective: With the largest data set of patients with LIS1-related lissencepha...
BackgroundThe TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, ...