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Year Number of Results
1999 2
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Page 1
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T. Pecimonova M, et al. Medicine (Baltimore). 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. Medicine (Baltimore). 2021. PMID: 34087865 Free PMC article.
RATIONALE: Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene. PATIENT CONCERNS: We report the c …
RATIONALE: Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neur …
Absence epilepsy and periventricular nodular heterotopia.
de Wit MC, Schippers HM, de Coo IF, Arts WF, Lequin MH, Brooks A, Visser GH, Mancini GM. de Wit MC, et al. Seizure. 2010 Sep;19(7):450-2. doi: 10.1016/j.seizure.2010.06.013. Epub 2010 Jul 15. Seizure. 2010. PMID: 20637656 Free article.
EEG showed absence seizures of sudden onset with 3 Hz spike-and-waves that also correlated with the clinical absences. The seizure semiology included subtle deviation of the eyes which prompted MRI investigation of the brain. This showed a periventricular nodular …
EEG showed absence seizures of sudden onset with 3 Hz spike-and-waves that also correlated with the clinical absences. The seizure se …
Treatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS System: Efficacy and description of chronic electrophysiological recordings.
Nune G, Arcot Desai S, Razavi B, Agostini MA, Bergey GK, Herekar AA, Hirsch LJ, Lee RW, Rutecki PA, Srinivasan S, Van Ness PC, Tcheng TK, Morrell MJ. Nune G, et al. Clin Neurophysiol. 2019 Aug;130(8):1196-1207. doi: 10.1016/j.clinph.2019.04.706. Epub 2019 May 9. Clin Neurophysiol. 2019. PMID: 31163364 Free article.
OBJECTIVES: Describe changes in clinical seizure frequency and electrophysiological data recorded in patients with medically-intractable seizures and periventricular nodular heterotopias (PVNH) treated with the RNS System (NeuroPace, Inc., Mountain View, CA). METHODS: C …
OBJECTIVES: Describe changes in clinical seizure frequency and electrophysiological data recorded in patients with medically-intracta …
Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia.
Sisodiya SM, Free SL, Thom M, Everitt AE, Fish DR, Shorvon SD. Sisodiya SM, et al. Neurology. 1999 Jan 15;52(2):336-41. doi: 10.1212/wnl.52.2.336. Neurology. 1999. PMID: 9932953 Clinical Trial.
OBJECTIVE: To determine whether clinical differences between the sexes seen in periventricular nodular heterotopia (PNH) have structural correlates on imaging. ...
OBJECTIVE: To determine whether clinical differences between the sexes seen in periventricular nodular heterotopia …
Double Inversion Recovery Magnetic Resonance Imaging in Identifying Focal Cortical Dysplasia.
Wong-Kisiel LC, Britton JW, Witte RJ, Kelly-Williams KM, Kotsenas AL, Krecke KN, Watson RE Jr, Patton A, Hanson DP, Mandrekar J. Wong-Kisiel LC, et al. Pediatr Neurol. 2016 Aug;61:87-93. doi: 10.1016/j.pediatrneurol.2016.04.013. Epub 2016 May 5. Pediatr Neurol. 2016. PMID: 27241231
We assessed the ability of double inversion recovery to distinguish focal cortical dysplasia from periventricular nodular heterotopia and normal brain. METHODS: Patients with focal cortical dysplasia were identified from our patient database, as was a control …
We assessed the ability of double inversion recovery to distinguish focal cortical dysplasia from periventricular nodular h …
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R. Cellini E, et al. Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683929 Free PMC article. Clinical Trial.
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ectopically retained along the lateral ventricles. ...
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ectopically retained …
FLNA genomic rearrangements cause periventricular nodular heterotopia.
Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA. Clapham KR, et al. Neurology. 2012 Jan 24;78(4):269-78. doi: 10.1212/WNL.0b013e31824365e4. Epub 2012 Jan 11. Neurology. 2012. PMID: 22238415 Free PMC article.
OBJECTIVE: To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative. ...
OBJECTIVE: To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for wh …
The clinical and imaging features of gray matter heterotopia: a clinical analysis on 15 patients.
Raza HK, Chen H, Chansysouphanthong T, Zhang Z, Hua F, Ye X, Zhang W, Dong L, Zhang S, Wang X, Cui G. Raza HK, et al. Neurol Sci. 2019 Mar;40(3):489-494. doi: 10.1007/s10072-018-3667-9. Epub 2018 Dec 10. Neurol Sci. 2019. PMID: 30535564
OBJECTIVE: To investigate the clinical and imaging features of gray matter heterotopia (GMH) and improve the clinicians' understanding of the disease. ...We found that 10 patients had the subcortical type of GMH and 5 patients had the subependymal type or periventricula …
OBJECTIVE: To investigate the clinical and imaging features of gray matter heterotopia (GMH) and improve the clinicians' understandin …
Periventricular nodular heterotopia and childhood absence epilepsy.
Giza CC, Kuratani JD, Cokely H, Sankar R. Giza CC, et al. Pediatr Neurol. 1999 Apr;20(4):315-8. doi: 10.1016/s0887-8994(98)00152-0. Pediatr Neurol. 1999. PMID: 10328284
A young female presented with an epileptic syndrome resembling childhood absence epilepsy, a normal neurologic examination, generalized 3-Hz spike-and-wave discharges, and clinical absences. Her seizures responded to treatment with valproic acid. Other abnormalities in her …
A young female presented with an epileptic syndrome resembling childhood absence epilepsy, a normal neurologic examination, generalized 3-Hz …
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE. Myers KA, et al. Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25. Epilepsia. 2017. PMID: 28440867
Corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles were the most common, although periventricular nodular heterotopia, focal cortical dysplasia, abnormal sulcation, and brainstem and cerebellum abnormalities were also observed. ...
Corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles were the most common, although periventricular nodular …
16 results