Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and <i>GPR56</i> gene mutations

Parrini, Elena; Ferrari, Anna Rita; Dorn, Thomas; Walsh, Christopher A.; Guerrini, Renzo

doi:10.1111/j.1528-1167.2008.01787.x

Cited by 51 publications

(57 citation statements)

References 41 publications

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“…Even though many genes associated with brain malformations have been identified, the precise embryopathologic mechanisms are far from clear. Parrini et al 44 have recently shown that identical mutations in the GPR56 gene cause frontal polymicrogyria in different areas of the frontal lobes, and they do not fully understand why. Genetic polymicrogyrias, such as those associated with 22q11.2 deletions, 45 often have asymmetric involvement of the cerebral hemispheres, but it is not clear why that is the case.…”

Section: Discussionmentioning

confidence: 99%

Diffusion Abnormalities and Reduced Volume of the Ventral Cingulum Bundle in Agenesis of the Corpus Callosum: A 3T Imaging Study

Nakata

Barkovich²,

Wahl³

et al. 2009

AJNR Am J Neuroradiol

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Background and Purpose Patients with agenesis of the corpus callosum (AgCC) exhibit cognitive and behavioral impairments that are not replicated by surgical transection of the callosum, suggesting that other anatomic changes may contribute to the observed clinical findings. The purpose of this study was to determine whether the ventral cingulum bundle (VCB) is affected in patients with AgCC by using diffusion tensor imaging (DTI) and volumetry. Materials and Methods Twelve participants with AgCC (8 males and 4 females; mean age, 30 ± 20) and 12 control subjects matched forage and sex (mean age, 37 ± 19) underwent MR imaging and DTI at 3T. 3D fiber tracking of the VCB was generated from DTI and the average fractional anisotropy (FA) was computed for the tracked fibers. Additionally, the volume, cross-sectional area, and length of the VCB were measured by manually drawn regions of interest on thin-section coronal T1-weighted images. The Student t test was used to compare these results. Results Compared with controls, subjects with AgCC demonstrated significantly reduced FA in the right VCB (P= .0098) and reduced volume and cross-sectional areas of both the left and right VCB (P< .001 for all metrics). The length of the VCB was also significantly reduced in the complete AgCC subgroup compared with controls (P = .030 in the right and P = .046 in the left, respectively). Conclusions Patients with AgCC have abnormal microstructure and reduced volume of the VCB, suggesting that abnormalities in intrahemispheric white matter tracts may be an important contributor to the clinical syndrome in patients with AgCC.

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Section: Discussionmentioning

confidence: 99%

Diffusion Abnormalities and Reduced Volume of the Ventral Cingulum Bundle in Agenesis of the Corpus Callosum: A 3T Imaging Study

Nakata

Barkovich²,

Wahl³

et al. 2009

AJNR Am J Neuroradiol

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“…However, it may still elicit GGE [Parrini et al, 2009]. Patient 3 had maternal family members with a diagnosis of JME (but not 22q11DS), suggesting a familial GGE disorder independent of 22q11DS.…”

Section: Discussionmentioning

confidence: 99%

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

Strehlow

Thomas

et al. 2016

Mol Syndromol

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Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS. We additionally screened a database of 173 22q11DS patients and identified a fourth individual with JME as well as 2 additional cases with GGE. We describe 6 novel and 22 published cases with co-occurrence of 22q11DS and GGE. In many patients, GGE was associated with myoclonic seizures allowing for a diagnosis of JME in at least 6 individuals. Seventeen of the 173 22q11DS cases (10%) had a diagnosis of either focal or generalized epilepsy. In these cases, focal epilepsy could often be attributed to syndrome-associated hypocalcaemia, cerebral bleeds, or structural brain anomalies. However, the cause of GGE remained unclear. In this study, we describe and review 28 individuals with 22q11DS and GGE (especially JME), showing that both disorders frequently co-occur. Compared to the reported prevalence of 15-21%, in our case series only 10% of 22q11DS individuals were found to have epilepsy, often GGE. Since 22q11.2 does not contain convincing GGE candidate genes, we discuss the possibility of an aetiological correlation through a possibly disturbed interaction with the GABA_B receptor.

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“…The occurrence in siblings is extremely rare and has been reported in a family with bilateral frontoparietal polymicrogyria due to GPR56 mutations [94]. Recently Lawrence et al reported a novel DXC mutation in a family with three siblings affected by LGS and anterior pachygyria [95].…”

Section: Introductionmentioning

confidence: 99%

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

et al. 2011

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The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views.

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Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and GPR56 gene mutations

Cited by 51 publications

References 41 publications

Diffusion Abnormalities and Reduced Volume of the Ventral Cingulum Bundle in Agenesis of the Corpus Callosum: A 3T Imaging Study

Diffusion Abnormalities and Reduced Volume of the Ventral Cingulum Bundle in Agenesis of the Corpus Callosum: A 3T Imaging Study

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

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