scholarly journals Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development

2017 ◽  
Vol 173 (12) ◽  
pp. 3127-3131 ◽  
Author(s):  
Savannah Michels ◽  
Kimberly Foss ◽  
Kaylee Park ◽  
Katie Golden-Grant ◽  
Russell Saneto ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Cortical Development ◽  
Malformations Of Cortical Development

scholarly journals A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Ru Shen ◽  
Zhen Zhang ◽  
Yu Zhuang ◽  
Xiaohong Yang ◽  
Lifen Duan
Keyword(s):  
Neurodevelopmental Disorders ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Cortical Development ◽  
External Ear ◽  
Malformations Of Cortical Development ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
Functional Consequences ◽  
Genetic Data Analysis

Neurodevelopmental disorder caused by malformations of cortical development is a rare neurological disease. Heterozygous missense variants in the TUBG1 gene lead to malformations of human cortical development, which further result in intellectual disability, developmental retardation, and epilepsy. To the best of our knowledge, only thirteen patients and a total of nine pathogenic TUBG1 variants have been described in the published literature. This study reports the case details and genetic data analysis of a girl (aged 8 years, 9 months) with developmental delay, psychomotor regression, epilepsy, and left external ear deformity. A novel TUBG1 mutation was identified by whole-exome sequencing and Sanger sequencing, confirming that this mutation may be the cause of the neurodevelopmental disorders. This case report characterizes the phenotypic spectrum, molecular genetic findings, and functional consequences of novel pathogenic TUBG1 variants in neurodevelopmental disorders caused by cortical development malformations.

scholarly journals Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients

Children ◽  
2021 ◽  
Vol 8 (8) ◽  
pp. 637
Author(s):  
Valeria Venti ◽  
Maria Chiara Consentino ◽  
Pierluigi Smilari ◽  
Filippo Greco ◽  
Claudia Francesca Oliva ◽  
...  
Keyword(s):  
Clinical Features ◽  
Cortical Development ◽  
Young Patients ◽  
Cortical Dysplasia ◽  
Drug Resistant ◽  
Malformations Of Cortical Development ◽  
Group Iii ◽  
Group I ◽  
Cognitive Involvement ◽  
Group Ii

Background. Malformations of cortical development (MCD) include a wide range of congenital disorders mostly causing severe cognitive dysfunction and epilepsy. Objective: to report on clinical features including cognitive involvement, epileptic seizures with response to antiseizure medications, comorbidities in young patients affected by MCD and followed in a single tertiary hospital. Patients and methods: A retrospective review of the medical records and magnetic resonance images (MRI) of 19 young patients with an age ranging between eight days and fifteen years affected by MCD and admitted to Pediatrics Department University of Catania, Italy from October 2009 and October 2020 were selected. Patients were distinguished in three groups following the Barcovich et al. 2012 classification for MCD: 4 (21%) in Group I; 8 (42%) in Group II; and, and 7 (37%) in Group III. Clinical features and MRI of the patients including cognitive involvement, epilepsy type and response to drugs treatment were analyzed. Results: In Group I, two patients showed cortical dysplasia and two dysembryoplastic neuroepithelial tumors plus focal cortical dysplasia; developmental delay/intellectual disability (DD/ID) was severe in one, moderate in one and absent in two; the type of seizures was in all the cases focal to bilateral tonic-clonic (FBTCs), and drug resistant was found in one case. In Group II, three patients showed neuronal hetero-topias and five had pachygyria-lissencephaly: DD/ID was severe in four, moderate in two, and absent in two; the type of seizure was focal (FS) in five, focal to bilateral tonic-clonic (FBTCs) in two, infantile spasms (IS) in one, and drug resistant was found in three. In Group III, six showed polymicrogyria and one schizencephaly: DD/ID was found severe in five, moderate in two, and the type of seizure was focal (FS) in five, FBTCS in two, and drug resistance was found in three.

scholarly journals Teaching NeuroImages: Brain MRI and FDG-PET in malformations of cortical development and hippocampal hypoplasia

Neurology ◽  
2011 ◽  
Vol 77 (8) ◽  
pp. e47-e47 ◽  
Author(s):  
D. Renard ◽  
G. Castelnovo ◽  
D. Daubin ◽  
L. Collombier ◽  
C. Briere ◽  
...  
Keyword(s):  
Fdg Pet ◽  
Brain Mri ◽  
Cortical Development ◽  
Malformations Of Cortical Development

Heterogeneous epileptogenicity and cortical function within malformations of cortical development: A case report

2006 ◽  
Vol 251 (1-2) ◽  
pp. 129-133
Author(s):  
Masako Kinoshita ◽  
Akio Ikeda ◽  
Junya Taki ◽  
Keiko Usui ◽  
Riki Matsumoto ◽  
...  
Keyword(s):  
Case Report ◽  
Cortical Development ◽  
Malformations Of Cortical Development ◽  
Cortical Function

scholarly journals Malformations of cortical development: current concepts and advanced neuroimaging review

2011 ◽  
Vol 69 (1) ◽  
pp. 130-138 ◽  
Author(s):  
Celi Santos Andrade ◽  
Claudia da Costa Leite
Keyword(s):  
Imaging Techniques ◽  
Cortical Development ◽  
Motor Dysfunction ◽  
Malformations Of Cortical Development ◽  
Neurodevelopmental Delay ◽  
Complex Process ◽  
Magnetic Resonance Imaging Mri ◽  
Specific Disorders ◽  
Patients With Epilepsy ◽  
Work Up

Malformations of cortical development (MCD) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, neurodevelopmental delay and motor dysfunction. Nowadays, magnetic resonance imaging (MRI) is the cornerstone of the work-up of patients with epilepsy and modern advanced imaging techniques have improved not only our ability to detect and characterize cortical malformations, but also in identifying associated functional abnormalities that are far beyond the structural visualized lesions. Herein, we address the most currently used classifications of MCD and make a concise review of the embryological process of cortical development. Our main goal is to summarize recent advances and new trends in diagnostic imaging techniques concerning MCD. Thereafter, follows a brief discussion of specific disorders and their radiological features.

Genetic malformations of cortical development

2006 ◽  
Vol 173 (2) ◽  
pp. 322-333 ◽  
Author(s):  
Renzo Guerrini ◽  
Carla Marini
Keyword(s):  
Cortical Development ◽  
Malformations Of Cortical Development
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