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Search Results to William B. Dobyns

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One or more keywords matched the following items that are connected to Dobyns, William

Item TypeName
Concept Epilepsy
Concept Migraine with Aura
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article Epilepsy and malformations of the cerebral cortex.
Academic Article Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article Cortical dysplasias, genetics, and epileptogenesis.
Academic Article Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Academic Article Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Academic Article Ultra-high-field MR imaging in polymicrogyria and epilepsy.
Academic Article X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Academic Article X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Academic Article Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Academic Article Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article The microcephaly-capillary malformation syndrome.
Academic Article Malformations of cortical development and epilepsy.
Academic Article Epilepsy and outcome in FOXG1-related disorders.
Academic Article Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Academic Article De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Academic Article Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Academic Article Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
Academic Article MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article A developmental and genetic classification for malformations of cortical development: update 2012.
Academic Article Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Academic Article Malformations of cortical development and epilepsy.
Academic Article Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.
Academic Article Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Academic Article Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Academic Article Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Academic Article Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Academic Article Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Academic Article ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Academic Article Expanding the KIF4A-associated phenotype.
Academic Article Lissencephaly: Update on diagnostics and clinical management.
Academic Article Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Academic Article Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.

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