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GenomicsCompound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
Periventricular nodular heterotopia is a malformation of cortical development characterized by nodules of abnormally migrated neurons.
EGAS00001004793 | EGA
GenomicsSpatial Transcriptomics reveals brain regional gene expression profiles in murine model of Periventricular Heterotopia
Spatial Transcriptomics reveals brain regional gene expression profiles in murine model of Periventricular Heterotopia
PRJNA1079233 | ENA
OtherSpatial Transcriptomics reveals brain regional gene expression profiles in murine model of Periventricular Heterotopia
Periventricular Heterotopia (PH) is a malformation of cerebral cortical development characterized by the presence of neurons along the wall of lateral ventricles. The most notable neurological symptoms are seizures that usually first appear when PH becomes evident during the teenage years. Heterozyg...
ORGANISM(S): Mus musculus 
2024-03-04 | GSE256342 | GEO
UnknownBipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.
Not available
S-EPMC8504088 | biostudies-literature
UnknownHemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
Not available
S-EPMC7713383 | biostudies-literature
UnknownFLNA genomic rearrangements cause periventricular nodular heterotopia.
Not available
S-EPMC3280053 | biostudies-literature
ProteomicsECE2 regulates Neurogenesis and Neuronal Migration during Cortical Development.
During embryonic development, the cerebral cortex is equipped with excitatory projection and inhibitory interneurons that migrate in organized layers. Periventricular heterotopia (PH) is a rare and heterogeneous disorder in which a subpopulation of new-born projection neurons fails to initiate their...
ORGANISM(S): Homo sapiens (Human) 
2020-03-09 | PXD015571 | Pride
Ce2 Periventricular heterotopia Cerebral organoids Embryonic development 
ProteomicsNeuronal Hyperactivity in Neurons Derived from Individuals with Grey Matter Heterotopia
Periventricular heterotopia (PH), the most common form of grey matter heterotopia, represents a cortical malformation that is often associated with developmental delay and drug-resistant seizures1,2. The detailed neurophysiological underpinnings of PH symptoms in humans remain, however, elusive. Hum...
ORGANISM(S): Homo sapiens (Human) 
2025-01-13 | PXD038760 | Pride
Human Neuronal hyperactivity. fat4 Qe plus Periventricular heterotopia O cerebral rganoids Dchs1 
UnknownFamilial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Not available
S-EPMC6305664 | biostudies-literature
UnknownPeriventricular heterotopia: new insights into Ehlers-Danlos syndrome.
Not available
S-EPMC1288408 | biostudies-literature
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