about
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodA longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopiaMutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humansA new paradigm for West syndrome based on molecular and cell biologyMutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromePhenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyDe Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyA combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephalyBiallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathySomatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly.TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.SPTAN1 encephalopathy: distinct phenotypes and genotypes.WDR45 mutations in three male patients with West syndrome.Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification.Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression.A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephalyPathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delayPARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.De novo GABRA1 mutations in Ohtahara and West syndromes.A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord.Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyCharacterization of SPATA5-related encephalopathy in early childhood.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Mitsuhiro Kato
@ast
Mitsuhiro Kato
@en
Mitsuhiro Kato
@es
Mitsuhiro Kato
@nl
type
label
Mitsuhiro Kato
@ast
Mitsuhiro Kato
@en
Mitsuhiro Kato
@es
Mitsuhiro Kato
@nl
prefLabel
Mitsuhiro Kato
@ast
Mitsuhiro Kato
@en
Mitsuhiro Kato
@es
Mitsuhiro Kato
@nl
P106
P1153
35416764100
P31
P496
0000-0003-1485-8553