HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Malformations of Cortical Development

Subscribe to New Research on Malformations of Cortical Development

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal CELL PROLIFERATION or APOPTOSIS; abnormal neuronal migration; and abnormal establishment of cortical organization via neurite extension, synaptogenesis, or neuronal maturation. As well as mutations effecting these developmental processes directly, there are a variety of inborn metabolic errors, such as PEROXISOMAL DISORDERS and mitochondrial and pyruvate metabolic disorders which effect them secondarily and also exhibit these malformations. They are common causes of EPILEPSY and developmental delay and are often a component of multiple congenital anomalies.

Also Known As:

Cerebral Cortical Dysplasia; Cortical Dysplasia; Cortical Dysplasia, Cerebral; Hemimegalencephaly; Malformations of Cerebral Cortex Development; Polymicrogyria; Schizencephaly; Cerebral Cortical Dysplasias; Cortical Development Malformation; Cortical Development Malformations; Cortical Dysplasias; Cortical Dysplasias, Cerebral; Development Malformation, Cortical; Development Malformations, Cortical; Dysplasia, Cerebral Cortical; Dysplasia, Cortical; Dysplasias, Cerebral Cortical; Dysplasias, Cortical; Hemimegalencephalies; Polymicrogyrias; Schizencephalies

Networked: 599 relevant articles (10 outcomes, 53 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Seizures (Seizure)
2.	Epilepsy (Aura)
3.	Tuberous Sclerosis (Bourneville's Disease)
4.	Neuroepithelial Neoplasms (Gliomatosis Cerebri)
5.	Sturge-Weber Syndrome (Sturge-Kalischer-Weber Syndrome)

Experts

1.	Vinters, Harry V: 16 articles (04/2015 - 04/2002)
2.	Guerrini, Renzo: 13 articles (12/2015 - 04/2002)
3.	Dobyns, William B: 12 articles (12/2015 - 03/2004)
4.	Mathern, Gary W: 12 articles (04/2015 - 02/2004)
5.	Aronica, Eleonora: 11 articles (01/2014 - 06/2003)
6.	Crino, Peter B: 10 articles (06/2015 - 03/2002)
7.	Barkovich, A James: 9 articles (04/2015 - 08/2002)
8.	Cepeda, Carlos: 8 articles (02/2014 - 06/2004)
9.	Walsh, Christopher A: 7 articles (04/2015 - 03/2004)
10.	Piao, Xianhua: 7 articles (01/2015 - 03/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Malformations of Cortical Development:

1.	2,6-dinitrotoluene (DNT)IBA 02/01/2010 - "One patient had dysembryoplastic neuroepithelial tumor (DNT) and three patients had focal cortical dysplasia (FCD). " 03/01/1997 - "Histologically, this lesion was located within the cortex of the middle temporal gyrus and consisted of multinodular foci and the surrounding cortical dysplasia, resembling dysembryoplastic neuroepithelial tumor (DNT). " 01/01/2001 - "The purpose of this study was to clarify and compare the influence of surgical strategy on relief from seizures in patients with focal cortical dysplasia (FCD) and those with dysembryoplastic neuroepithelial tumor (DNT). " 03/01/2014 - "We retrospectively investigated 88 patients (40 female, 48 male, mean age 37.2 yrs, from 12 to 69 yrs, 41 left sided lesions) with LTLE operated at our department, including 40.9% gangliogliomas (GG), 26.1% cavernomas (CM), 10.2% dysembryoplastic neuroepithelial tumours (DNT) and 11.4% focal cortical dysplasias (FCD), excluding hippocampal sclerosis. " 10/01/2006 - "The spectrum of glioneuronal lesions underlying intractable epilepsies includes malformative pathologies like focal cortical dysplasia (FCD); and neoplastic lesions like gangliogliomas (GG) and dysembryoplastic neuroepithelial tumours (DNT). "
2.	Tryptophan (L-Tryptophan)FDA Link 04/01/2009 - " uptake of the PET tracer 11C-alpha-methyl tryptophan shows promise for localizing epileptogenic malformations of cortical development. " 09/01/2008 - "Preliminary studies suggest that alpha[(11)C]methyl-l-tryptophan positron emission tomography can detect the epileptic focus within malformations of cortical development. " 09/01/2008 - "We determined the sensitivity and specificity of alpha-[(11)C]methyl-l-tryptophan positron emission tomography in identifying epileptic focus in children with intractable, neocortical epilepsy with and without malformations of cortical development. "
3.	Lennox-Gastaut type Epileptic encephalopathyIBA 06/01/2009 - "Several genes, when mutated, can cause malformations of cortical development that have been associated with the Lennox-Gastaut syndrome. " 06/01/2009 - "Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations." 11/01/2008 - "We report the case of a girl with hemimegalencephaly (HME) and Lennox-Gastaut syndrome (LGS) treated by callosotomy at 1 year of age. " 11/01/2008 - "Corpus callosotomy in a patient of hemimegalencephaly and Lennox-Gastaut syndrome." 08/01/2006 - "One child presented with Lennox-Gastaut syndrome, two with hemispheric cortical dysplasia. "
4.	mitomycin C-dextranIBA 11/01/2004 - "We conclude that patients with FCD type 1 and mMCD had a better outcome compared with those with more severe forms of cortical dysplasia. " 09/01/2009 - "Particular emphasis will be paid to the classification system for focal cortical dysplasias (FCD), which can be histopathologically distinguished as type I and II. Also mild forms of cortical malformations (mMCD) may be present, including heterotopic neurons in white matter location. " 11/01/2004 - "Distribution of histological subtypes differed in temporal and extratemporal localization, with a significantly higher extratemporal prevalence of FCD type 2. There was a tendency towards better postsurgical outcome related to the last follow-up visit in patients with more subtle abnormalities classified as mild malformations of cortical development (mMCD) (63% Engel Ia), FCD type 1a (67% Engel Ia) and FCD type 1b (55% Engel Ia) compared with patients with FCD type 2a (43% Engel Ia) and FCD type 2b (Taylor type) (50% Engel Ia). " 12/01/2010 - "A cohort of children with significant prenatal and perinatal brain injury and histologically proven mild malformations of cortical development (mMCD) or FCD was analyzed. "
5.	sulthiame (sultiam)IBA 07/01/2012 - "A striking result was that 3 of 11 children with unilateral polymicrogyria and ESES syndrome became seizure free, and in another six a significant improvement in frequency of seizures and in EEG abnormalities seemed to be related to the add-on of sulthiame. "
6.	Proteins (Proteins, Gene)IBA 05/01/2015 - "To study the expression of autophagy-related proteins (Beclin-1, LC3 and p62) in brain tissue with malformations of cortical development and related molecular pathogenesis. " 05/01/2015 - "[Expression of autophagy-related proteins in malformations of cortical development]." 09/01/2007 - "Expression and cellular distribution of multidrug resistance-related proteins in patients with focal cortical dysplasia." 04/01/2007 - "Because of the morphological similarities between GG and cortical dysplasia, we show that there is activation of the mTOR cascade in GG as evidenced by enhanced expression of phospho-p70S6kinase and phosphoribosomal S6 proteins. " 01/25/2006 - "Targeted deletion of two members of the FE65 family of adaptor proteins, FE65 and FE65L1, results in cortical dysplasia. "
7.	Glutamate Receptors (Glutamate Receptor)IBA 06/01/2004 - "The subunit composition of glutamate receptors affects their functional properties, and could contribute to abnormal electrophysiology in pediatric cortical dysplasia (CD). " 09/01/1998 - "Developmental disorders of neuronal migrations in the human brain are referred to as 'cortical dysplasia', and current knowledge of cortical dysplasia is limited to varied pathologic descriptions which lack specific investigations of glutamate receptor mechanisms. " 02/01/2008 - "Moreover, it appears that epileptogenesis in cortical dysplasia is partly caused by the upregulations of some glutamate receptor subunit proteins (NR1, NR2A/B, GluR1, and GluR3) in balloon cells and dysplastic neurons. " 01/01/2003 - "The lack of gross and/or widespread alterations of glutamate-receptor subunit distribution in the surround of focal cortical dysplasia suggests the presence of other or additional mechanisms underlying the increased excitatory neurotransmitter binding and excitability in cortical malformations." 09/01/2011 - "Several hypotheses have so far been presented for seizure susceptibility in polymicrogyria, including alterations of glutamate receptor distribution, abnormalities in ion channels, new excitatory or inhibitory connections, and downregulation of GABA(A) receptor subunits. "
8.	alpha- Amino- 3- hydroxy- 5- methyl- 4- isoxazolepropionic Acid (AMPA)IBA 01/01/2003 - "Receptor-binding studies in rodents demonstrated reduced binding to GABA and increased binding to glutamate receptors within cortical dysplasias and increments of AMPA- and kainate-receptor binding in its surround. " 09/01/1998 - "In this study, immunocytochemistry was used to study the expressions of glutamate receptor subunit proteins for NMDAR2A/B, NMDAR1 and AMPA Glu-R2/3 in human brain resected for intractable epilepsy associated with cortical dysplasia. " 01/01/1998 - "Immunocytochemistry was used to study the expressions of glutamate receptor subunit proteins for NMDAR2A/B, NMDAR1 splice variants, and AMPA Glu-R2/3 in human brain resected for intractable epilepsy associated with cortical dysplasia. "
9.	Perisylvian syndromeIBA 04/01/2010 - "To characterize the auditory processing in bilateral perisylvian syndrome, we examined ten patients with perisylvian polymicrogyria (Group I) and seven control children (Group II). " 06/01/2008 - "Congenital bilateral perisylvian syndrome (CBPS) is frequently caused by polymicrogyria (PMG). " 06/01/2007 - "A case of congenital bilateral perisylvian syndrome (CBPS) associated with bilateral perisylvian schizencephaly in a 24-year-old woman is reported. " 06/01/2007 - "A case of congenital bilateral perisylvian syndrome due to bilateral schizencephaly." 08/01/2006 - "Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. "
10.	TubulinIBA 04/01/2014 - "The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin. " 06/01/2014 - "This is best exemplified by the recent identification of mutations within components of the PI3K-AKT-mTOR pathway in hemimegalencephaly and megalencephaly syndromes, and the rapidly increased identification of mutations within the tubulin family in a broad range of cortical and non-cortical brain malformations. " 04/03/2014 - "As a consequence, genetic variations affecting all beta-tubulin genes expressed at high levels in the brain (TUBB2B, TUBB3, TUBB, TUBB4A, and TUBB2A) have been linked with malformations of cortical development." 03/15/2014 - "We also reported the identification of missense mutations in TUBB3, the postmitotic neuronal specific tubulin, in six different families presenting either polymicrogyria or gyral disorganization in combination with cerebellar and basal ganglial abnormalities. " 11/01/2009 - "Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia."

Therapies and Procedures

1.	Hemispherectomy 04/01/1991 - "Hemimegalencephaly (HME) is a severe unilateral brain malformation the prognosis of which may be improved by hemispherectomy. " 03/01/2015 - "Early modified functional hemispherectomy in a young infant with Ohtahara syndrome and hemimegalencephaly." 09/01/2014 - "The group with cortical malformations generally had surgery at a younger age; two patients with malformations of cortical development who underwent functional hemispherectomy required second surgeries. " 11/01/2004 - "Diffusion property following functional hemispherectomy in hemimegalencephaly." 07/01/2004 - "Eleven out of these 18 children underwent hemispherectomy because of hemimegalencephaly (HME): their mean age was 14.5 months (range 3-56 months); non-HME patients underwent surgery for epileptogenic lesions involving the cerebral hemisphere to a great extent or diffusely. "
2.	Electrodes (Electrode) 01/01/2015 - "We evaluated the spatiotemporal distribution of photic driving (PDR), photoparoxysmal (PPR), and photoconvulsive (PCR) responses recorded by intracranial electrodes (ic-EEG) in a patient with generalized photosensitivity and right frontal lobe cortical dysplasia. " 09/01/2012 - "Chronic intracranial electrodes are used in about 50% of cases with cortical dysplasia, but often do not capture restricted ictal-onset zones. " 07/01/2011 - "The mean total number of electrodes was 118 ± 29; the mean numbers of grid, strip, and depth electrodes were 95 ± 27, 10 ± 6, and 13 ± 5, respectively The most common pathological condition was focal cortical dysplasia. " 12/15/2007 - "All patients underwent intracranial electrode implantations with long-term video-EEG monitoring before the resective surgeries and the postoperative pathologies were all proved to be focal cortical dysplasia. " 08/14/2007 - "Subdural electrode analysis in focal cortical dysplasia: predictors of surgical outcome."
3.	Anterior Temporal Lobectomy 05/25/2004 - "To study the extent of temporal lobe volume (TLV) abnormalities in patients with pathologically confirmed HS (with or without cortical dysplasia [CD]) who underwent anterior temporal lobectomy for the treatment of drug-resistant TLE. " 04/01/1997 - "Surgical procedures using the neuronavigation system were anterior temporal lobectomy, corpus callosotomy and lesionectomy of focal cortical dysplasia. " 06/01/1992 - "This report describes a patient with unilateral schizencephaly and poorly controlled complex partial seizures who was found to have a temporal lobe seizure focus; anterior temporal lobectomy produced nearly complete control of the seizures. "
4.	Vagus Nerve Stimulation 03/12/2013 - "This study investigates the effects of vagus nerve stimulation (VNS) on seizure severity and blood-brain barrier (BBB) integrity in kindled rats with cortical dysplasia (CD). " 03/12/2013 - "Vagus nerve stimulation inhibits seizure activity and protects blood-brain barrier integrity in kindled rats with cortical dysplasia." 07/01/2015 - "We present an exceptional case of a patient with hemimegalencephaly and secondary intractable epilepsy treated with vagus nerve stimulation (VNS) and subsequent glioblastoma development in the hemimegalencephalic hemisphere 6 years after surgery. "
5.	Wound Closure Techniques 04/01/2011 - "The purpose of this study is to describe the malformations of cortical development detected in a model of cerebrospinal fluid (CSF) leakage and the influence of surgical closure technique on developmental outcome. "