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Total 442 results found since Jan 2013.

Editorial
In this issue ofBrain David Brenner and colleagues report a hot-spot of mutations in the kinesin family geneKIF5A causing familial amyotrophic lateral sclerosis, adding to the existing genetic evidence implicating altered cytoskeletal function and intracellular transport in this disease. Two other papers broaden the range of manifestations of genetic disorders involving glutamate receptors. Juliette Piard, George Umanah, Frederike Harms and co-workers identify a mutation in the AAA+ family ATPase Thorase, encoded byATAD1, which leads to lethal encephalopathy and arthrogryposis, while Andrew Fry, Katherine Fawcett and colle...
Source: Brain - February 27, 2018 Category: Neurology Source Type: research

Mutations in SCN3A cause early infantile epileptic encephalopathy
This article is protected by copyright. All rights reserved.
Source: Annals of Neurology - February 21, 2018 Category: Neurology Authors: Tariq Zaman, Ingo Helbig, Ivana Babi ć Božović, Suzanne D. DeBrosse, A. Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L. Helbig, Xiaohong Zhang, Ethan M. Goldberg Tags: Research Article Source Type: research

Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea".
Authors: Park SM, Kim BS, Kim MB, Ko HC PMID: 29441111 [PubMed]
Source: Korean Journal of Pediatrics - February 16, 2018 Category: Pediatrics Tags: Korean J Pediatr Source Type: research

White matter spongiosis with vigabatrin therapy for infantile spasms
Summary The histopathology, “white matter spongiosis,” defined by electron microscopy (EM) as “intramyelinic edema,” has been associated with vigabatrin therapy in various animal models, but its role or significance in clinical studies is unknown. We conducted a neuropathological examination on a 27‐month‐old boy with bilateral polymicrogyria and epilepsy after sudden unexpected death in epilepsy (SUDEP). The patient was initiated on vigabatrin at 4 months of age, which controlled infantile spasms, and was continued as maintenance therapy. Autopsy showed a combination of developmental and acquired lesions: (1)...
Source: Epilepsia - February 1, 2018 Category: Neurology Authors: Phillip L. Pearl, Annapurna Poduri, Sanjay P. Prabhu, Chellamani Harini, Richard Goldstein, Richard M. Atkinson, Dawna Armstrong, Hannah Kinney Tags: BRIEF COMMUNICATION Source Type: research

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
AbstractSee Crino (doi:10.1093/brain/awy047) for a scientific commentary on this article.Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we foundde novo heterozygous missenseGRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine furtherde novo missenseGRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epile...
Source: Brain - January 22, 2018 Category: Neurology Source Type: research

Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China.
Conclusion: Leber hereditary optic neuropathy is the most common detected type of hereditary optic neuropathy in Shanghai, China. The detection of other autosomal mutations in hereditary optic neuropathy is limited by the currently available technique. PMID: 29348930 [PubMed]
Source: Journal of Ophthalmology - January 21, 2018 Category: Opthalmology Tags: J Ophthalmol Source Type: research

Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report
We report a case of Zellweger syndrome in a newborn baby, which was first suspected by the presence of scimitar-like patella seen on skeletal survey. The subsequent brain MRI showed germinolytic cysts and polymicrogyria, which furthered the suspicion. Laboratory and genetic results confirmed the diagnosis. To date, there are a limited number of case reports of this rare disease. We emphasize skeletal findings that can lead to targeted genetic and laboratory testing and hence earlier diagnosis.
Source: Clinical Imaging - January 19, 2018 Category: Radiology Authors: Anilawan Smitthimedhin, Hansel J. Otero Tags: Case Report 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

Neuronal Migration Disorders.
Abstract Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to provide critical assessment of anatomic and physiologic trai...
Source: Radiologic Technology - January 1, 2018 Category: Radiology Authors: Roberts B Tags: Radiol Technol Source Type: research

Manifestation of recessive combined D ‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome
We report here for the first time a patient who manifested combined D‐2‐ and L‐2‐hydroxyglutaric aciduria as a result of a hemizygous mutation in SLC25A1 in combination with 22q11.2 deletion. The girl was diagnosed to have ACC shortly after birth and a deletion of 22q11.2 was identified by genetic analysis. Although the patient showed cardiac anomalies, which is one of the typical symptoms of 22q11.2 deletion syndrome, her rather severe phenotype and atypical face prompted us to search for additional pathogenic mutations. Three genes present in the deleted 22q11.2 region, SLC25A1, TUBA8, and SNAP29, which have been...
Source: American Journal of Medical Genetics Part A - December 19, 2017 Category: Genetics & Stem Cells Authors: Mariko Eguchi, Erina Ozaki, Toshifumi Yamauchi, Masaaki Ohta, Takashi Higaki, Kiyoshi Masuda, Issei Imoto, Eiichi Ishii, Minenori Eguchi ‐Ishimae Tags: ORIGINAL ARTICLE 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

Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports
Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. Retinal detachment (RD) often occurs at the end of the first decade of life or late...
Source: BMC Ophthalmology - November 25, 2017 Category: Opthalmology Authors: Robert J. White, Yao Wang, Peter Tang and Sandra R. Montezuma Tags: Case report Source Type: research

Stereoelectroencephalography and surgical outcome in polymicrogyria ‐related epilepsy: A multicentric study
ObjectiveWe aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG‐related drug‐resistant epilepsy. MethodsWe retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy. ResultsMean age at SEEG or surgery was 28.3 years (range, 2–50). PMG was bilateral in 9 (16%) patients and unilateral in 49, including 17 (29%) unilobar, 12 (21%) multilobar, 15 (26%) perisylvian, and only 5 (9%) hemispheric. Twenty‐eight (48%) pati...
Source: Annals of Neurology - November 11, 2017 Category: Neurology Authors: Louis Georges Maillard, Laura Tassi, Fabrice Bartolomei, H élène Catenoix, François Dubeau, William Szurhaj, Philippe Kahane, Anca Nica, Petr Marusic, Ioana Mindruta, Francine Chassoux, Georgia Ramantani Tags: Research Article Source Type: research

A review of structural brain abnormalities in Pallister ‐Killian syndrome
ConclusionOur study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder. We report two cases of Pallister‐Killian Syndrome, and conducted a literature review to describe a diverse neuropathological basis for impaired brain function in children diagnosed with this rare disorder.
Source: Molecular Genetics & Genomic Medicine - November 1, 2017 Category: Genetics & Stem Cells Authors: Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad ‐Rokny, Simon Williams, Helen Wright, Karen J. Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik‐Tsen Heng Tags: ORIGINAL ARTICLE Source Type: research