4.6 Article

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases

Francesca Darra et al.

Summary: This study analyzed the diagnostic value of the electroclinical semiology of epileptic seizures. The medical records of CDKL5 deficiency disorder (CDD) patients were evaluated, and three disease phases were identified. The study found that the seizure semiology was already recognizable in the first phase of the syndrome, and drug-resistant seizure polymorphism and neurological impairment were characteristic of CDD.

EPILEPSY RESEARCH (2023)

Article Clinical Neurology

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Sameer M. Zuberi et al.

Summary: This article proposes a classification and definition of epilepsy syndromes in neonates and infants, aiming to support epilepsy diagnosis and emphasize the importance of classifying epilepsy by syndrome and etiology. The article reports the epidemiology, clinical course, seizure types, EEG, neuroimaging, genetics, and differential diagnosis for each syndrome, and presents self-limited syndromes, developmental and epileptic encephalopathies, and etiology-specific epilepsy syndromes.

EPILEPSIA (2022)

Article Biochemistry & Molecular Biology

In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctions

Sara Carli et al.

Summary: CDKL5 deficiency disorder is a severe neurodevelopmental condition caused by mutations in the X-linked CDKL5 gene, characterized by infantile epileptic encephalopathy, intellectual disability, and autistic features. Magnetic Resonance methods revealed a metabolic dysregulation suggestive of mitochondrial dysfunction in the brain of Cdkl5 deficient mice, highlighting potential therapeutic strategies targeting mitochondria.

JOURNAL OF NEUROCHEMISTRY (2021)

Article Clinical Neurology

Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder

Yingying Tang et al.

Summary: Quantitative MRI analysis of children with CDD revealed global volume loss in the cortex and subcortical gray matter, showing a progressive trend with disease progression. Cortical thickness proved to be a more sensitive measure than surface area in disclosing cortical atrophy and disease progression.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2021)

Article Developmental Biology

Molecular and Synaptic Bases of CDKL5 Disorder

Yong-Chuan Zhu et al.

DEVELOPMENTAL NEUROBIOLOGY (2019)

Article Clinical Neurology

Severity Assessment in CDKL5 Deficiency Disorder

Scott Demarest et al.

PEDIATRIC NEUROLOGY (2019)

Review Clinical Neurology

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Heather E. Olson et al.

PEDIATRIC NEUROLOGY (2019)

Article Biochemistry & Molecular Biology

Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder

Leonardo Lupori et al.

HUMAN MOLECULAR GENETICS (2019)

Review Biochemistry & Molecular Biology

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic

Shilpa D. Kadam et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Article Clinical Neurology

CDKL5 deficiency entails sleep apneas in mice

Viviana Lo Martire et al.

JOURNAL OF SLEEP RESEARCH (2017)

Article Neuroimaging

Large-scale structural alteration of brain in epileptic children with SCN1A mutation

Yun-Jeong Lee et al.

NEUROIMAGE-CLINICAL (2017)

Article Behavioral Sciences

CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice

S. Sivilia et al.

GENES BRAIN AND BEHAVIOR (2016)

Article Genetics & Heredity

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

Meghana Mangatt et al.

ORPHANET JOURNAL OF RARE DISEASES (2016)

Article Clinical Neurology

Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene

Eveline E. O. Hagebeuk et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2013)

Article Multidisciplinary Sciences

Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development

Yong-Chuan Zhu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Genetics & Heredity

Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships

Nadia Bahi-Buisson et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Review Clinical Neurology

Epilepsy in Rett syndrome, and CDKL5-and FOXG1-gene-related encephalopathies

Renzo Guerrini et al.

EPILEPSIA (2012)

Article Clinical Neurology

Clinical Phenotype of 5 Females With a CDKL5 Mutation

Xenia L. Stalpers et al.

JOURNAL OF CHILD NEUROLOGY (2012)

Letter Clinical Neurology

The neuropathological consequences of CDKL5 mutation

S. M. L. Paine et al.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2012)

Article Clinical Neurology

Biometry of the Corpus Callosum in Children: MR Imaging Reference Data

C. Garel et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2011)

Article Clinical Neurology

Lesions in the central tegmental tract in autopsy cases of developmental brain disorders

Mutsuki Shioda et al.

BRAIN & DEVELOPMENT (2011)

Article Clinical Neurology

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

Federico Melani et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)

Article Clinical Neurology

CDKL5 alterations lead to early epileptic encephalopathy in both genders

Jao-Shwann Liang et al.

EPILEPSIA (2011)

Article Radiology, Nuclear Medicine & Medical Imaging

Symmetrical central tegmental tract (CTT) hyperintense lesions on magnetic resonance imaging in children

Shoko Yoshida et al.

EUROPEAN RADIOLOGY (2009)

Article Genetics & Heredity

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

S. Russo et al.

NEUROGENETICS (2009)

Article Clinical Neurology

Key clinical features to identify girls with CDKL5 mutations

Nadia Bahi-Buisson et al.

Article Clinical Neurology

The three stages of epilepsy in patients with CDKL5 mutations

Nadia Bahi-Buisson et al.

EPILEPSIA (2008)

Article Clinical Neurology

Myoclonic encephalopathy in the CDKL5 gene mutation

S Buoni et al.

CLINICAL NEUROPHYSIOLOGY (2006)

Article Genetics & Heredity

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation

LS Weaving et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)