The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood-onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients with MLC, four mutant alleles were detected: one case of compound heterozygosity for a splice site mutation and a six-base-pair in-frame deletion, one patient with a homozygous frameshifting insertion-deletion, and a further case heterozygous for a A157E substitution. A systematic mutation screening in 140 index cases with schizophrenia revealed 13 different single nucleotide polymorphisms (SNPs): one SNP in the 5'-UTR, seven SNPs in intronic regions...
International audienceCurrent research suggests that alterations in neurodevelopmental processes, in...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
Whereas some rare genetic variants convey high risk for schizophrenia (SZ), common alleles conveying...
Die Periodische Katatonie ist eine diagnostisch gut abgrenzbare Untergruppe der Schizophrenie mit be...
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (MIM #. 604004) is a rare autosomal...
Die periodische Katatonie ist ein reliabel diagnostizierbarer Subtyp der unsystematischen Schizophre...
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. ...
Background: Chromosome 22q13 has shown linkage with schizophrenia (SCZ) and bipolar affective disord...
Schizophrenia is a common, debilitating psychiatric disorder with a substantial genetic component. B...
Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephal...
BACKGROUND: Periodic catatonia is a familial subtype of schizophrenia characterized by hyperkinetic ...
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. ...
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their inte...
Contains fulltext : 81575.pdf (publisher's version ) (Closed access)Schizophrenia ...
Megalencephalic leukoencephalopathy with subcortical cysts(OMIM 604004) is a heterogeneous neurodege...
International audienceCurrent research suggests that alterations in neurodevelopmental processes, in...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
Whereas some rare genetic variants convey high risk for schizophrenia (SZ), common alleles conveying...
Die Periodische Katatonie ist eine diagnostisch gut abgrenzbare Untergruppe der Schizophrenie mit be...
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (MIM #. 604004) is a rare autosomal...
Die periodische Katatonie ist ein reliabel diagnostizierbarer Subtyp der unsystematischen Schizophre...
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. ...
Background: Chromosome 22q13 has shown linkage with schizophrenia (SCZ) and bipolar affective disord...
Schizophrenia is a common, debilitating psychiatric disorder with a substantial genetic component. B...
Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephal...
BACKGROUND: Periodic catatonia is a familial subtype of schizophrenia characterized by hyperkinetic ...
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. ...
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their inte...
Contains fulltext : 81575.pdf (publisher's version ) (Closed access)Schizophrenia ...
Megalencephalic leukoencephalopathy with subcortical cysts(OMIM 604004) is a heterogeneous neurodege...
International audienceCurrent research suggests that alterations in neurodevelopmental processes, in...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
Whereas some rare genetic variants convey high risk for schizophrenia (SZ), common alleles conveying...