Definitions and classification of malformations of cortical development: practical guidelines

M Severino, AF Geraldo, N Utz, D Tortora, I Pogledic… - Brain, 2020 - academic.oup.com
Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Congenital brain malformations: an integrated diagnostic approach

BP Chaudhari, ML Ho - Seminars in pediatric neurology, 2022 - Elsevier
Congenital brain malformations are abnormalities present at birth that can result from
developmental disruptions at various embryonic or fetal stages. The clinical presentation is …

De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects

A Accogli, S Calabretta, J St-Onge… - The American Journal of …, 2019 - cell.com
Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent
cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin …

[HTML][HTML] Morphological and advanced imaging of epilepsy: beyond the basics

A Fitsiori, SB Hiremath, J Boto, V Garibotto, MI Vargas - Children, 2019 - mdpi.com
The etiology of epilepsy is variable and sometimes multifactorial. Clinical course and
response to treatment largely depend on the precise etiology of the seizures. Along with the …

Neuropsychological profiles of children with agenesis of the corpus callosum: A sco** review

A Wright, R Booth - Developmental Medicine & Child Neurology, 2023 - Wiley Online Library
Aim To understand the wide variety of clinical outcomes in children with agenesis of the
corpus callosum (AgCC) and examine evidence for the proposed neuropsychological …

Complete agenesis of corpus callosum and unilateral cortical formation anomalies detected on fetal MR imaging: a phenotype strongly associated with the male …

EA Vola, PD Griffiths, C Parazzini, G Palumbo… - European …, 2023 - Springer
Introduction In a previous study of classifying fetuses with cortical formation abnormalities
(CFA) with fetal MR, we noticed a cluster of cases with unilateral CFA and complete …

Basal ganglia dysmorphism in patients with Aicardi syndrome

S Masnada, A Pichiecchio, M Formica, F Arrigoni… - Neurology, 2021 - neurology.org
Objective Aiming to detect associations between neuroradiologic and EEG evaluations and
long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical …

Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts

M Severino, D Tortora, C Reid, S Uccella, L Nobili… - Neuroradiology, 2022 - Springer
Purpose To explore the relationships between clinical-radiological features and surgical
outcomes in subjects with interhemispheric cysts (IHC) and corpus callosum anomalies …

Aicardi syndrome: key fetal MRI features and prenatal differential diagnosis

S Masnada, D Chiara, I Giana, F Manuela… - …, 2020 - thieme-connect.com
Objective This study was aimed to investigate the prenatal findings in Aicardi syndrome
(AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic …

Surgical treatment and clinical outcome of large pediatric interhemispheric cysts with callosal agenesis: a systematic literature review with four additional patients

G Ferrera, IG Vetrano, L Chiapparini… - Clinical Neurology and …, 2021 - Elsevier
Objective Large interhemispheric cysts (IHC) with partial or complete agenesis of corpus
callosum (ACC) constitute a heterogeneous group of rare disorders. Neurosurgical …