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Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia
Publication date: Available online 5 December 2014 Source:Molecular Genetics and Metabolism Author(s): Mark Nellist , Rachel Schot , Marianne Hoogeveen-Westerveld , Rinze F. Neuteboom , Elles J.T.M. van der Louw , Maarten H. Lequin , Karen Bindels-de Heus , Barbara J. Sibbles , René de Coo , Alice Brooks , Grazia M.S. Mancini Activating germ-line and somatic mutations in AKT3 (OMIM 611223) are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH; OMIM #615937) and megalencephaly-capillary malformation (MCAP; OMIM #602501). Here we report an individual with megalencephaly, polymicrogyria...
Source: Molecular Genetics and Metabolism - December 6, 2014 Category: Genetics & Stem Cells Source Type: research

Isolated Microtia With Anterior Hemispheric Polymicrogyria
We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian and frontal cortex. He had no other associated anomaly on physical examination, genetics, metabolic, and radio imaging studies. The study of the data collected from the Italian Birth Defect Registry reported the incidence of microtia-anotia as 1.46/10 000. Microtia-anotia can also be found in association with other anomalies that characterizes oculo-auriculo-vertebral sp...
Source: Journal of Child Neurology - June 19, 2015 Category: Neurology Authors: Rai, B., Gouda, R., Moka, S., Dunbar, L. E. Tags: Brief Communication Source Type: research

Failure to Identify the Left Arcuate Fasciculus at Diffusion Tractography Is a Specific Marker of Language Dysfunction in Pediatric Patients with Polymicrogyria.
Conclusion. In patients with PMG (1) the presence of dysplastic cortex within WA and/or BA is associated with absence of the left AF and (2) absence of the left AF is associated with language impairment. PMID: 26180373 [PubMed - in process]
Source: Behavioural Neurology - July 19, 2015 Category: Neurology Authors: Paldino MJ, Hedges K, Gaab N, Galaburda AM, Grant PE Tags: Behav Neurol Source Type: research

GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients
Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Ante...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Desai, N. A., Udani, V. Tags: Original Articles Source Type: research

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.
Abstract Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and known to result from biallelic mutations in the Occludin(OCLN) gene. This is report of a family of Indian origin with two affected sibs and segregation of a homozygous novel OCLN mutation in the exon 3(NG_028291.1(OCLN_v001):c.252delC). A literature review suggests that renal dysfunction may be an unrecognized phenotypic manifestation of OCLN mutations and monitoring for the same should form part of the clinical care of these individuals....
Source: European Journal of Medical Genetics - December 12, 2015 Category: Genetics & Stem Cells Authors: Aggarwal S, Bahal A, Dalal A Tags: Eur J Med Genet Source Type: research

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Authors: Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS Abstract Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have a...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy
We report an individual with global delays, seizures, and polymicrogyria that extends beyond the occipital lobes and includes the frontal, parietal, temporal, and occipital lobes. Next-generation sequencing identified a homozygous nonsense mutation inLAMC3: c.3190C>T (p.Gln1064*). This finding extends the cortical phenotype associated withLAMC3 mutations.
Source: Neurogenetics - December 15, 2017 Category: Genetics & Stem Cells Source Type: research

Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases
Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, for patients without resective epileptogenic cortices, has not been established in DBP. Because CC might be effective against DBP-related epilepsy, we conducted total CC in three pediatric DBP cases.
Source: Brain and Development - April 3, 2018 Category: Neurology Authors: Shimpei Baba, Tohru Okanishi, Mitsuyo Nishimura, Sotaro Kanai, Shinji Itamura, Takayuki Suzuki, Yosuke Masuda, Hideo Enoki, Ayataka Fujimoto Tags: Case report Source Type: research

Polymicrogyria in association with hypoglycemia points to mutation in the PI3K-AKT-mTOR pathway.
We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic, hypoketotic hypoglycaemia is a rare complication of pathogenic variants in the PI3K-AKT-mTOR pathway genes including AKT2, AKT3, CCND2, PIK3R2 and PIK3CA, and has been identified in a PIK3CA mutant mouse model. Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia. Recognizing the association of hypoglycemia with PI3K-AKT-mTOR pathway...
Source: European Journal of Medical Genetics - June 5, 2018 Category: Genetics & Stem Cells Authors: Stutterd C, McGillivray G, Stark Z, Messazo B, Cameron F, White S, Mirzaa G, Leventer R Tags: Eur J Med Genet Source Type: research

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Abstract Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A > G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family. The patient showed early onset primary microcephaly, detected in the fetal period, postnatal growth restriction, encephalopathy with hyperkinetic movement disorders and s...
Source: European Journal of Medical Genetics - August 16, 2018 Category: Genetics & Stem Cells Authors: Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N, Bahi-Buisson N Tags: Eur J Med Genet Source Type: research

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy
We report an individual with global delays, seizures, and polymicrogyria that extends beyond the occipital lobes and includes the frontal, parietal, temporal, and occipital lobes. Next-generation sequencing identified a homozygous nonsense mutation inLAMC3: c.3190C>T (p.Gln1064*). This finding extends the cortical phenotype associated withLAMC3 mutations.
Source: Neurogenetics - January 1, 2018 Category: Genetics & Stem Cells Source Type: research

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
This study shows how two independent mutations can interact leading to complex brain malformations.
Source: Neurogenetics - April 12, 2019 Category: Genetics & Stem Cells Source Type: research

Central Sulcus Misfolding: Polarity Reversal of SSEP N20 Potential in "layered" Polymicrogyria.
Authors: Hale T, Knecht A, Barbarevech K, Yue Q Abstract Paradoxical cortical potential polarity of the upper extremity somatosensory evoked potential (SSEP) has been reported in cases of polymicrogyria (PMG) syndrome. To date, the pathophysiological basis of this electrophysiological aberration remains under investigation. Here we present a case of mild PMG that showed "layered" microgyri in the left frontoparietal cortices affecting both hand and foot sensorimotor areas. The SSEP recordings revealed an isolated polarity reversal of N20 from the dysplastic cortex. We postulate a central sulcus misfolding theory to...
Source: The Neurodiagnostic Journal - September 7, 2019 Category: Neurology Tags: Neurodiagn J Source Type: research

De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria.
CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder. PMID: 31820818 [PubMed - in process]
Source: Revista de Neurologia - December 12, 2019 Category: Neurology Authors: Castro-Gago M, Gómez-Lado C, Barros-Angueira F, Trujillo-Ariza MV, Fuentes-Pita P, López-Vázquez AM, Eirís-Puñal J Tags: Rev Neurol Source Type: research