This page shows you your search results in order of date. This is page number 20.

Order by Relevance | Date

Total 442 results found since Jan 2013.

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Abstract Primary autosomal recessive microcephaly (MCPH) is a developmental disorder characterized by prenatal onset of abnormal brain growth. MCPH occurs both alone and as part of a broad range of neurodevelopmental syndromes with or without cortical malformations and growth retardation. Here we report a consanguineous Moroccan family with two siblings affected by severe primary microcephaly, failure to thrive, congenital dermatitis and severe developmental delay. Brain magnetic resonance imaging showed lissencephaly of frontal lobes and periventricular heterotopia of the gray matter. We performed both Comparativ...
Source: Clinical Genetics - October 26, 2016 Category: Genetics & Stem Cells Authors: Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V Tags: Clin Genet Source Type: research

Surgical treatment of polymicrogyria ‐related epilepsy
Summary ObjectiveThe role of resective surgery in the treatment of polymicrogyria (PMG)–related focal epilepsy is uncertain. Our aim was to retrospectively evaluate the seizure outcome in a consecutive series of patients with PMG‐related epilepsy who received, or did not receive, surgical treatment, and to outline the clinical characteristics of patients who underwent surgery. MethodsWe evaluated 64 patients with epilepsy associated with magnetic resonance imaging (MRI)–documented PMG. After presurgical evaluation, 32 patients were excluded from surgical treatment and 32 were offered surgery, which was declined by 8 ...
Source: Epilepsia - October 24, 2016 Category: Neurology Authors: Massimo Cossu, Veronica Pelliccia, Francesca Gozzo, Giuseppe Casaceli, Stefano Francione, Lino Nobili, Roberto Mai, Laura Castana, Ivana Sartori, Francesco Cardinale, Giorgio Lo Russo, Laura Tassi Tags: Full ‐Length Original Research Source Type: research

Genes, Vol. 7, Pages 85: Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient
We report only the second case of congenital cataracts and the first of gut dysmotility in a patient with DYNC1H1, thus expanding the spectrum of disease seen in DYNC1H1 dyneinopathies.
Source: Genes - October 13, 2016 Category: Genetics & Stem Cells Authors: Rose Gelineau-Morel Marshall Lukacs K. Weaver Robert Hufnagel Donald Gilbert Rolf Stottmann Tags: Case Report Source Type: research

Second-Trimester Sonographic Diagnosis of Polymicrogyria
Source: Journal of Ultrasound in Medicine - September 25, 2016 Category: Radiology Authors: Kappou, D., Chlapoutaki, C., Papastefanou, I., Theodorou, G., Kassanos, D., Souka, A. P. Tags: Clinical Letters Source Type: research

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
• Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation• Extends phenotypic spectrum of BICD2 disease• Not dissimilar to evolving phenotypes associated with mutations of DYNC1H1, which encodes a BICD2 binding partner
Source: Neuromuscular Disorders - September 18, 2016 Category: Neurology Authors: Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing Tags: Case report Source Type: research

Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders.
In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy. In one patient, seizures were first detected during the EEG recording and one case had an encephalopathy with electrical status epilepticus during slow sleep (ESES). Focal interictal discharges in our patients did not imply the presence of underlyin...
Source: European Journal of Medical Genetics - September 12, 2016 Category: Genetics & Stem Cells Authors: Boronat S, Vicente M, Lainez E, Sánchez-Montañez A, Vázquez E, Mangado L, Martínez-Ribot L, Del Campo M Tags: Eur J Med Genet Source Type: research

Bilateral perisylvian polymicrogyria: An interesting presentation of malformation of cortical development in an adult
Deepak Menon, Sweta Swaika, Ramsekhar Menon, Bejoy Thomas, Ashalatha RadhakrishnanNeurology India 2016 64(5):1086-1087
Source: Neurology India - September 11, 2016 Category: Neurology Authors: Deepak Menon Sweta Swaika Ramsekhar Menon Bejoy Thomas Ashalatha Radhakrishnan Source Type: research

Recurrent de novo BICD2 mutation associated with severe arthrogryposis and polymicrogyria: Expanding the phenotype
In this report we described two isolated probands (one German and one Australian) that presented in utero with features associated with reduced fetal movements.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: G. Ravenscroft, N. Di Donato, M. Davis, P. Craven, G. Poke, K. Neas, T. Neuhann, W. Dobyns, N. Laing Source Type: research

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
AbstractCutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form ofATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis). One of the patients has myoclonic epilepsy which may have contributed to his more severe clinical presentat...
Source: Neurogenetics - September 7, 2016 Category: Genetics & Stem Cells Source Type: research

Genetic Basis of Brain Malformations
Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of theLIS1, DCX, ARX,RELN,VLDLR,ACTB,ACTG1,TUBG1,KIF5C,KIF2A, and CDK5 genes have been associated with these malformations. More recent studies have also established a relationship...
Source: Molecular Syndromology - August 26, 2016 Category: Molecular Biology Source Type: research

Vigabatrin efficacy in GPR56 ‐associated polymicrogyria: The role of GABAA receptor pathway
Source: Epilepsia - August 1, 2016 Category: Neurology Authors: Marcello Bellusci, Marina Trivisano, Luca Palma, Nicola Pietrafusa, Federico Vigevano, Nicola Specchio Tags: Letter Source Type: research

Intracranial Evaluation and Laser Ablation for Epilepsy with Periventricular Nodular Heterotopia
The disruption of radial neuronal migration during brain development results in malformations composed of heterotopic grey matter (Barkovich et al., 2012). These may form continuous bands (laminar heterotopia) or discrete nodules, either in subcortical or periventricular locations (periventricular nodular heterotopia, PVNH). PVNH typically resides along the walls of the ventricular trigone, either unilaterally or bilaterally (Tassi et al., 2005). Nodular heterotopia is often associated with other types of cortical malformation, including polymicrogyria (PMG) (Wieck et al., 2005) and focal cortical dysplasia (Meroni et al.,...
Source: Seizure: European Journal of Epilepsy - July 14, 2016 Category: Neurology Authors: Stephen A. Thompson, Giridhar P. Kalamangalam, Nitin Tandon Tags: Review Source Type: research

Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia
The disruption of radial neuronal migration during brain development results in malformations composed of heterotopic gray matter [1]. These may form continuous bands (laminar heterotopia) or discrete nodules, either in subcortical or periventricular locations (periventricular nodular heterotopia, PVNH). PVNH typically resides along the walls of the ventricular trigone, either unilaterally or bilaterally [2]. Nodular heterotopia is often associated with other types of cortical malformation, including polymicrogyria (PMG) [3] and focal cortical dysplasia [4], and is a common cause of refractory focal epilepsy [5,6].
Source: Seizure: European Journal of Epilepsy - July 14, 2016 Category: Neurology Authors: Stephen A. Thompson, Giridhar P. Kalamangalam, Nitin Tandon Tags: Review Source Type: research

The pathology of incipient polymicrogyria
To characterise the early tissue changes of post encephaloclastic polymicrogyria in the human fetus.
Source: Brain and Development - July 8, 2016 Category: Neurology Authors: Phedias Diamandis, David Chitayat, Ants Toi, S. Blaser, Patrick Shannon Tags: Original article Source Type: research