Polymicrogyria

Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.

Also Known As:

Networked: 132 relevant articles (1 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Seizures (Absence Seizure)
2.	Lissencephaly
3.	Malformations of Cortical Development
4.	Megalencephaly
5.	Infections

Experts

1.	Dobyns, William B: 8 articles (01/2021 - 01/2004)
2.	Bahi-Buisson, Nadia: 6 articles (12/2019 - 06/2009)
3.	Pilz, Daniela T: 5 articles (12/2019 - 09/2010)
4.	Poirier, Karine: 5 articles (03/2014 - 06/2009)
5.	Chelly, Jamel: 5 articles (03/2014 - 06/2009)
6.	Jansen, Anna C: 4 articles (01/2021 - 01/2019)
7.	Fry, Andrew E: 4 articles (12/2019 - 02/2013)
8.	Takano, Tomoyuki: 4 articles (05/2015 - 03/2010)
9.	Mancini, Grazia M S: 3 articles (12/2019 - 07/2005)
10.	Oegema, Renske: 3 articles (12/2019 - 09/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Polymicrogyria:

1.	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. "
2.	DNA (Deoxyribonucleic Acid)IBA 01/01/2023 - "This genetic association study analyzed panel sequencing and exome sequencing of accrued DNA samples from a retrospective cohort of families with members with polymicrogyria. " 09/15/1978 - "The brain was of enormous size, weighing 2230 grams and showing widespread polymicrogyria and dysdifferentiation to regular large pyramidal neurons without increased DNA content. " 08/21/2014 - "Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). "
3.	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 05/01/2014 - "Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387). " 01/01/2017 - "Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. "
4.	CytokinesIBA 06/01/2002 - "In most studies, proxies of intrauterine infection (clinical chorioamnionitis, histological chorioamnionitis, intra-amniotic increase in cytokines) are associated with acute neonatal morbidity and mortality and, at least to some degree, with neurological impairments (periventricular leukomalacia, intraventricular hemorrhage, cerebral palsy, polymicrogyria), chronic lung disease, and involution of the thymus in the preterm infant. " 01/01/2016 - "Through studying NK cells from polymicrogyria patients with disease-causing mutations in ADGRG1, encoding GPR56, and NK-92 cells ectopically expressing the receptor, we found that GPR56 negatively regulates immediate effector functions, including production of inflammatory cytokines and cytolytic proteins, degranulation, and target cell killing. "
5.	Cytoplasmic DyneinsIBA 12/01/2013 - "Several recent studies describe disruptive mutations in the minus-end-directed microtubule motor cytoplasmic dynein that are directly linked to human motor neuropathies, such as SMA (spinal muscular atrophy) and axonal CMT (Charcot-Marie-Tooth) disease or malformations of cortical development, including lissencephaly, pachygyria and polymicrogyria. "
6.	Sirolimus (Rapamycin)FDA Link 01/01/2017 - "Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. "
7.	Cholinergic Agents (Cholinergics)IBA 08/01/2015 - "Post-mortem studies revealed (i) micrencephaly without polymicrogyria or heterotopia; (ii) atrophic cerebellar hemispheres with stunted folia, profound granule cell depletion, Bergmann gliosis, and signs of Purkinje cell deafferentation; (iii) selective striatal cholinergic interneuron loss; and (iv) optic atrophy with delamination of the lateral geniculate nuclei. "
8.	ethyl cysteinate dimerIBA 06/01/2008 - "Ictal technetium-99 m ethyl cysteinate dimer single-photon emission tomographic findings in epileptic patients with polymicrogyria syndromes: a subtraction of ictal-interictal SPECT coregistered to MRI study."
9.	Technetium-99IBA 06/01/2008 - "To describe the ictal technetium-99 m-ECD SPECT findings in polymicrogyria syndromes (PMG) during epileptic seizures. " 06/01/2008 - "Ictal technetium-99 m ethyl cysteinate dimer single-photon emission tomographic findings in epileptic patients with polymicrogyria syndromes: a subtraction of ictal-interictal SPECT coregistered to MRI study."
10.	Proteins (Proteins, Gene)FDA Link 01/24/2023 - "Exome sequencing of families with polymicrogyria (disordered cortical folding) revealed multiple individuals with biallelic deleterious variants in TMEM161B, which encodes a multi-pass transmembrane protein of unknown function. " 01/01/2019 - "Recessive mutations in RTTN, encoding the protein rotatin, were originally identified as cause of polymicrogyria, a cortical malformation. " 05/01/2015 - "To investigate seizure susceptibility in polymicrogyria, the seizure threshold and growth-associated protein GAP43 expression were analyzed in a rat experimental model of polymicrogyria induced by intracerebral injection of ibotenate. " 02/01/2014 - "This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in TUBB2B and provides further insight in how mutations in TUBB2B affect protein function. " 11/01/2013 - "Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria."

Therapies and Procedures

1.	Transcranial Magnetic Stimulation 08/18/2022 - "This study is the first to employ transcranial magnetic stimulation (TMS) and diffusion tensor imaging (DTI) to characterize changes to motor organization and white matter tracts induced by polymicrogyria. " 11/09/2023 - "Navigated transcranial magnetic stimulation to measure motor evoked potentials in a child with hemispheric polymicrogyria and focal epilepsy."
2.	Electrodes (Electrode) 01/01/2018 - "Using two-electrode and whole-cell voltage-clamp analysis, we showed that the polymicrogyria-associated GRIN1 mutations significantly alter the in vitro activity of the receptor. " 01/01/2014 - "We analysed representative seizure types from 33 consecutive patients with drug-resistant focal epilepsy and a structural magnetic resonance imaging lesion (11 mesial temporal sclerosis, nine focal cortical dysplasia, six cortical atrophy, three periventricular nodular heterotopia, three polymicrogyria, and one tuberous sclerosis complex) who underwent depth-electrode electroencephalographic recordings (500 Hz filter, 2000 Hz sampling rate). "
3.	Hemispherectomy 01/01/2018 - "The girl was affected by an epileptic encephalopathy associated with right fronto-temporo-parietal polymicrogyria; she was submitted to right hemispherectomy at the age of 5 and examined with cognitive and neuropsychological tests at the age of 17 years. "
4.	Therapeutics 11/01/2000 - "Frontal nonconvulsive status epilepticus associated with high-dose tiagabine therapy in a child with familial bilateral perisylvian polymicrogyria."
5.	Sutures (Suture) 06/15/2006 - "Almost all the symptoms of the patient, including polymicrogyria, microcephaly, facial abnormalities, internal anomalies, seizures, and mental retardation, were compatible with deletion 22q11.2 syndrome, except for synostosis of the metopic suture. "