Epilepsy and genetic in Rett syndrome: A review

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl

(2018) Kotaro Yuge et al.   BRAIN & DEVELOPMENT

Rett syndrome: a neurological disorder with metabolic components

(2018) Stephanie M. Kyle et al.   Open Biology

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

(2018) Mari Wold Henriksen et al.   BMC Medical Genetics

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

(2017) Silvia Vidal et al.   Scientific Reports

Longitudinal course of epilepsy in Rett syndrome and related disorders

(2016) Daniel C. Tarquinio et al.   BRAIN

SATB2-associated syndrome presenting with Rett-like phenotypes

(2016) J.S. Lee et al.   CLINICAL GENETICS

Rett-like phenotypes: expanding the genetic heterogeneity to theKCNA2gene and first familial case ofCDKL5-related disease

(2016) L. Allou et al.   CLINICAL GENETICS

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

(2016) Samin A. Sajan et al.   GENETICS IN MEDICINE

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

(2016) Mario Lucariello et al.   HUMAN GENETICS

Identification of novel genetic causes of Rett syndrome-likephenotypes

(2016) Fátima Lopes et al.   JOURNAL OF MEDICAL GENETICS

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature

(2016) Sabine Hoffjan et al.   MOLECULAR AND CELLULAR PROBES

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

(2015) Heather E. Olson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

(2015) Mauricio A. Sáez et al.   GENETICS IN MEDICINE

Management of epilepsy in patients with Rett syndrome: perspectives and considerations

(2015) Natalija Krajnc   Therapeutics and Clinical Risk Management

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders

(2014) N. Okamoto et al.   CLINICAL GENETICS

Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

(2014) Anna-Lena Baasch et al.   EPILEPSIA

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

(2014) Hirotomo Saitsu et al.   JOURNAL OF HUMAN GENETICS

Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome

(2014) Vishnu Anand Cuddapah et al.   JOURNAL OF MEDICAL GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Rett Syndrome and Epilepsy: An Update for Child Neurologists

(2013) Alison Dolce et al.   PEDIATRIC NEUROLOGY

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life

(2011) FEDERICO MELANI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

West syndrome associated with 14q12 duplications harboring FOXG1

(2011) P. Striano et al.   NEUROLOGY

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

(2010) Alan K. Percy et al.   ANNALS OF NEUROLOGY

Epilepsy in Rett syndrome-The experience of a National Rett Center

(2010) Andreea Nissenkorn et al.   EPILEPSIA

Epilepsy in Rett syndrome: Clinical and genetic features

(2010) Maria Pintaudi et al.   EPILEPSY & BEHAVIOR

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epilepsy and the natural history of Rett syndrome

(2010) D. G. Glaze et al.   NEUROLOGY

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

(2009) Alison Yeung et al.   European Journal of Medical Genetics

A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism

(2009) Kristina Jülich et al.   JOURNAL OF PEDIATRICS

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome

(2008) Sabrina Buoni et al.   CLINICAL NEUROPHYSIOLOGY

The three stages of epilepsy in patients withCDKL5mutations

(2008) Nadia Bahi-Buisson et al.   EPILEPSIA

Rett Syndrome: From the Gene to the Disease

(2008) Tanja Matijevic et al.   EUROPEAN NEUROLOGY

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

(2008) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

(2008) J. Nectoux et al.   NEUROLOGY

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

(2008) J. L. Neul et al.   NEUROLOGY