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hemimegalencephaly (86) 86
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Brain, ISSN 0006-8950, 06/2015, Volume 138, Issue 6, pp. 1613 - 1628
Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common... 
Childhood epilepsy | Molecular genetics | Malformations of cortical development | Brain development | molecular genetics | brain development | MAMMALIAN TARGET | LHERMITTE-DUCLOS-DISEASE | RILEY-RUVALCABA-SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | DOMINANT SKIN DISORDERS | PTEN GENE | EPIDERMAL NEVI | malformations of cortical development | childhood epilepsy | COWDEN SYNDROME | INTRACTABLE EPILEPSY | ACTIVATING MUTATIONS | HAMARTOMA TUMOR SYNDROME | Neuroimaging | Megalencephaly - pathology | Ribosomal Protein S6 Kinases - metabolism | Humans | Child, Preschool | Hemimegalencephaly - metabolism | Infant | Male | Brain - abnormalities | Proto-Oncogene Proteins c-akt - genetics | Brain - metabolism | Female | Malformations of Cortical Development - pathology | Proto-Oncogene Proteins c-akt - metabolism | Child | Infant, Newborn | Megalencephaly - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease - genetics | Malformations of Cortical Development - metabolism | Hemimegalencephaly - pathology | Megalencephaly - metabolism | Signal Transduction - genetics | Malformations of Cortical Development - genetics | Phosphatidylinositol 3-Kinases - genetics | Magnetic Resonance Imaging | Class I Phosphatidylinositol 3-Kinases | Adolescent | Mutation | Hemimegalencephaly - genetics | Index Medicus | Abridged Index Medicus | Original
Journal Article
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 10, pp. 2610 - 2622
Journal Article
Brain, ISSN 0006-8950, 06/2015, Volume 138, Issue 6, pp. 1446 - 1448
Journal Article
Journal Article
Journal Article
Epilepsia, ISSN 0013-9580, 06/2019, Volume 60, Issue 6, pp. e67 - e73
Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the... 
NPRL | epilepsy genetics | hemimegalencephaly | gene | NPRL3 gene | MAMMALIAN TARGET | CORTICAL DYSPLASIA | COMPLEX | ILAE COMMISSION | CLASSIFICATION | POSITION PAPER | MUTATIONS | CLINICAL NEUROLOGY | Genetic aspects | Analysis | Epilepsy | Genetic polymorphisms | Frontal lobe | Phenotypes | Next-generation sequencing | Clonal deletion | Exons | Phenotyping | Single-nucleotide polymorphism
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 01/2011, Volume 155, Issue 1, pp. 207 - 214
Journal Article
Journal Article
Cold Spring Harbor molecular case studies, ISSN 2373-2865, 09/2017, Volume 3, Issue 5, p. a001735
Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target... 
hemimegalencephaly | pachygyria | Genomic Imprinting | Brain - cytology | Humans | Child, Preschool | Genotype | Infant | DNA Methylation - genetics | DNA - genetics | Uniparental Disomy - genetics | Chromosomes - genetics | Alleles | Female | Hemimegalencephaly - genetics | Chromosomes, Human, Pair 16 - genetics | Index Medicus | Research Report
Journal Article