scholarly journals Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration

2018 ◽  
Vol 5 (11) ◽  
pp. 1314-1322 ◽  
Author(s):  
Arezoo Rezazadeh ◽  
Eduard Bercovici ◽  
Tim-Rasmus Kiehl ◽  
Eva W. Chow ◽  
Timo Krings ◽  
...  
Keyword(s):  
Frontal Lobe ◽  
22Q11.2 Deletion ◽  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

scholarly journals Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome

2017 ◽  
Vol 9 ◽  
pp. 55-57
Author(s):  
Moogeh Baharnoori ◽  
Daniel M. Mandell ◽  
Danielle M. Andrade ◽  
Eva W.C. Chow ◽  
Anne S. Bassett ◽  
...  
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

scholarly journals Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla De Angelis ◽  
Alicia B. Byrne ◽  
Rebecca Morrow ◽  
Jinghua Feng ◽  
Thuong Ha ◽  
...  
Keyword(s):  
Cortical Development ◽  
Occipital Cortex ◽  
Compound Heterozygous ◽  
Valuable Insight ◽  
Periventricular Nodular Heterotopia ◽  
Case Presentation ◽  
Malformation Of Cortical Development ◽  
Nodular Heterotopia ◽  
Compound Heterozygous Variants ◽  
Insight Into

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

27. EEG-fMRI of nodule-cortex interaction during interictal spiking in periventricular nodular heterotopia

2009 ◽  
Vol 16 (11) ◽  
pp. 1533-1534
Author(s):  
JS Archer ◽  
DF Abbott ◽  
R Masterton ◽  
S Palmer ◽  
GD Jackson
Keyword(s):  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

Electroencephalographic Recordings of Focal Seizures in Patients Affected by Periventricular Nodular Heterotopia: Role of the Heterotopic Nodules in the Genesis of Epileptic Discharges

2004 ◽  
Vol 19 (3) ◽  
pp. 369-377
Author(s):  
Giorgio Battaglia ◽  
Silvana Franceschetti ◽  
Luisa Chiapparini ◽  
Elena Freri ◽  
Stefania Bassanini ◽  
...  
Keyword(s):  
Brain Regions ◽  
Periventricular Nodular Heterotopia ◽  
Focal Seizures ◽  
Ictal Eeg ◽  
Epileptic Discharges ◽  
Nodular Heterotopia ◽  
Eeg Recordings ◽  
Drug Resistant Epilepsy ◽  
Video Eeg

Patients affected by periventricular nodular heterotopia are frequently characterized by focal drug-resistant epilepsy. To investigate the role of periventricular nodules in the genesis of seizures, we analyzed the electroencephalographic (EEG) features of focal seizures recorded by means of video-EEG in 10 patients affected by different types of periventricular nodular heterotopia and followed for prolonged periods of time at the epilepsy center of our institute. The ictal EEG recordings with surface electrodes revealed common features in all patients: all seizures originated from the brain regions where the periventricular nodular heterotopia were located; EEG patterns recorded on the leads exploring the periventricular nodular heterotopia were very similar both at the onset and immediately after the seizure's end in all patients. Our data suggest that seizures are generated by abnormal anatomic circuitries, including the heterotopic nodules and adjacent cortical areas. The major role of heterotopic neurons in the genesis and propagation of epileptic discharges must be taken into account when planning surgery for epilepsy in patients with periventricular nodular heterotopia. ( J Child Neurol 2005;20:369—377).

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

2011 ◽  
Vol 54 (1) ◽  
pp. 25-28 ◽  
Author(s):  
Alice Masurel-Paulet ◽  
Eric Haan ◽  
Elizabeth M. Thompson ◽  
Cyril Goizet ◽  
Christel Thauvin-Robinet ◽  
...  
Keyword(s):  
Lung Disease ◽  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

scholarly journals Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices

Epilepsia ◽  
2015 ◽  
Vol 56 (4) ◽  
pp. 626-635 ◽  
Author(s):  
Emily T. Doisy ◽  
H. Jürgen Wenzel ◽  
Yi Mu ◽  
Danh V. Nguyen ◽  
Philip A. Schwartzkroin
Keyword(s):  
Animal Model ◽  
Hippocampal Slices ◽  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

Network of autoscopic hallucinations elicited by intracerebral stimulations of periventricular nodular heterotopia: an SEEG study

Cortex ◽  
2021 ◽  
Author(s):  
Flavius-Ionut Bratu ◽  
Irina Oane ◽  
Andrei Barborica ◽  
Cristian Donos ◽  
Constantin Pistol ◽  
...  
Keyword(s):  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

P.1.j.010 Neuropsychological profiles in periventricular nodular heterotopia

2014 ◽  
Vol 24 ◽  
pp. S324-S325
Author(s):  
K. Kurzbuch ◽  
E. Pauli ◽  
B.S. Chang ◽  
K. Romatoski ◽  
M.E. Barnard ◽  
...  
Keyword(s):  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

Periventricular nodular heterotopia and childhood absence epilepsy

1999 ◽  
Vol 20 (4) ◽  
pp. 315-318 ◽  
Author(s):  
Christopher C Giza ◽  
John D Kuratani ◽  
Harriet Cokely ◽  
Raman Sankar
Keyword(s):  
Absence Epilepsy ◽  
Childhood Absence Epilepsy ◽  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

scholarly journals Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Yoshitaka Hiromoto ◽  
Yoshiteru Azuma ◽  
Yuichi Suzuki ◽  
Megumi Hoshina ◽  
Yuri Uchiyama ◽  
...  
Keyword(s):  
De Novo ◽  
Missense Variant ◽  
West Syndrome ◽  
Periventricular Nodular Heterotopia ◽  
Psychomotor Delay ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Epileptic Patients ◽  
Nodular Heterotopia ◽  
Refractory Seizures

AbstractPathogenic FLNA variants can be identified in patients with seizures accompanied by periventricular nodular heterotopia (PVNH). It is unusual to find FLNA aberrations in epileptic patients without PVNH on brain imaging. We report a boy with cryptogenic West syndrome followed by refractory seizures and psychomotor delay. We performed whole-exome sequencing and identified a de novo missense variant in FLNA. It is noteworthy that this patient showed no PVNH. As no other pathogenic variants were found in epilepsy-related genes, this FLNA variant likely caused West syndrome but with no PVNH.

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