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PVH - Periventricular heterotopia(NHBP; BPNH)

MedGen UID:
1639321
•Concept ID:
C4551969
•
Disease or Syndrome
Synonyms: Bilateral Periventricular Nodular Heterotopia; Nodular Heterotopia, Bilateral Periventricular
SNOMED CT: PVH - Periventricular heterotopia (448227009)
 
OMIM®: 300049

Professional guidelines

PubMed

X-linked neuronal migration disorders: Gender differences and insights for genetic screening.
Edey J, Soleimani-Nouri P, Dawson-Kavanagh A, Imran Azeem MS, Episkopou V
Int J Dev Neurosci 2023 Nov;83(7):581-599. Epub 2023 Aug 13 doi: 10.1002/jdn.10290. PMID: 37574439
Treatment of Epilepsy Associated with Periventricular Nodular Heterotopia.
Khoo HM, Gotman J, Hall JA, Dubeau F
Curr Neurol Neurosci Rep 2020 Oct 30;20(12):59. doi: 10.1007/s11910-020-01082-y. PMID: 33123826
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771

Recent clinical studies

Etiology

The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA
J Neurol 2023 Aug;270(8):3934-3945. Epub 2023 Apr 29 doi: 10.1007/s00415-023-11724-z. PMID: 37119372
The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
Lu YT, Hsu CY, Liu YT, Chan CK, Chuang YC, Lin CH, Chang KP, Ho CJ, Ng CC, Lim KS, Tsai MH
Biomed J 2022 Jun;45(3):542-548. Epub 2021 May 20 doi: 10.1016/j.bj.2021.05.003. PMID: 35660364Free PMC Article
Gray matter heterotopia: clinical and neuroimaging report on 22 children.
Di Nora A, Costanza G, Pizzo F, Oliva CF, Di Mari A, Greco F, Pavone P
Acta Neurol Belg 2022 Feb;122(1):153-162. Epub 2021 Sep 1 doi: 10.1007/s13760-021-01774-3. PMID: 34471972Free PMC Article
Genetic causes underlying grey matter heterotopia.
Vriend I, Oegema R
Eur J Paediatr Neurol 2021 Nov;35:82-92. Epub 2021 Oct 9 doi: 10.1016/j.ejpn.2021.09.015. PMID: 34666232
Molecular genetics of neuronal migration disorders.
Liu JS
Curr Neurol Neurosci Rep 2011 Apr;11(2):171-8. doi: 10.1007/s11910-010-0176-5. PMID: 21222180

Diagnosis

Diagnostic work-up in malformations of cortical development.
Rijckmans E, Stouffs K, Jansen AC
Dev Med Child Neurol 2024 Aug;66(8):974-989. Epub 2024 Feb 23 doi: 10.1111/dmcn.15882. PMID: 38394064
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Halliday BJ, Baynam G, Ewans L, Greenhalgh L, Leventer RJ, Pilz DT, Sachdev R, Scheffer IE, Markie DM, McGillivray G, Robertson SP, Mandelstam S
AJNR Am J Neuroradiol 2022 Nov;43(11):1660-1666. Epub 2022 Oct 13 doi: 10.3174/ajnr.A7663. PMID: 36229163Free PMC Article
Genetic causes underlying grey matter heterotopia.
Vriend I, Oegema R
Eur J Paediatr Neurol 2021 Nov;35:82-92. Epub 2021 Oct 9 doi: 10.1016/j.ejpn.2021.09.015. PMID: 34666232
Treatment of Epilepsy Associated with Periventricular Nodular Heterotopia.
Khoo HM, Gotman J, Hall JA, Dubeau F
Curr Neurol Neurosci Rep 2020 Oct 30;20(12):59. doi: 10.1007/s11910-020-01082-y. PMID: 33123826
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R
Handb Clin Neurol 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. PMID: 23622213

Therapy

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
Medicine (Baltimore) 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. PMID: 34087865Free PMC Article
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
Neurol Sci 2019 Mar;40(3):489-494. Epub 2018 Dec 10 doi: 10.1007/s10072-018-3667-9. PMID: 30535564
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
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
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
Pediatr Neurol 2016 Aug;61:87-93. Epub 2016 May 5 doi: 10.1016/j.pediatrneurol.2016.04.013. PMID: 27241231
Absence epilepsy and periventricular nodular heterotopia.
de Wit MC, Schippers HM, de Coo IF, Arts WF, Lequin MH, Brooks A, Visser GH, Mancini GM
Seizure 2010 Sep;19(7):450-2. Epub 2010 Jul 15 doi: 10.1016/j.seizure.2010.06.013. PMID: 20637656

Prognosis

The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA
J Neurol 2023 Aug;270(8):3934-3945. Epub 2023 Apr 29 doi: 10.1007/s00415-023-11724-z. PMID: 37119372
Magnetic resonance imaging features of isolated periventricular heterotopia in pediatric epilepsy: a comparative study.
Tittle BJ, Maheshwari M, Marashly A
Epileptic Disord 2022 Oct 1;24(5):795-802. doi: 10.1684/epd.2022.1450. PMID: 35792848
Genetic causes underlying grey matter heterotopia.
Vriend I, Oegema R
Eur J Paediatr Neurol 2021 Nov;35:82-92. Epub 2021 Oct 9 doi: 10.1016/j.ejpn.2021.09.015. PMID: 34666232
Surgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC).
Bourdillon P, Rheims S, Catenoix H, Montavont A, Ostrowsky-Coste K, Isnard J, Guénot M
Seizure 2020 Apr;77:64-68. Epub 2019 Jan 25 doi: 10.1016/j.seizure.2019.01.021. PMID: 30711397
Stereo-EEG: Diagnostic and therapeutic tool for periventricular nodular heterotopia epilepsies.
Mirandola L, Mai RF, Francione S, Pelliccia V, Gozzo F, Sartori I, Nobili L, Cardinale F, Cossu M, Meletti S, Tassi L
Epilepsia 2017 Nov;58(11):1962-1971. Epub 2017 Sep 7 doi: 10.1111/epi.13895. PMID: 28880999

Clinical prediction guides

The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA
J Neurol 2023 Aug;270(8):3934-3945. Epub 2023 Apr 29 doi: 10.1007/s00415-023-11724-z. PMID: 37119372
The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
Lu YT, Hsu CY, Liu YT, Chan CK, Chuang YC, Lin CH, Chang KP, Ho CJ, Ng CC, Lim KS, Tsai MH
Biomed J 2022 Jun;45(3):542-548. Epub 2021 May 20 doi: 10.1016/j.bj.2021.05.003. PMID: 35660364Free PMC Article
Gray matter heterotopia: clinical and neuroimaging report on 22 children.
Di Nora A, Costanza G, Pizzo F, Oliva CF, Di Mari A, Greco F, Pavone P
Acta Neurol Belg 2022 Feb;122(1):153-162. Epub 2021 Sep 1 doi: 10.1007/s13760-021-01774-3. PMID: 34471972Free PMC Article
Epilepsy phenotypes associated with MAP1B-related brain malformations.
Arya R, Spaeth C, Zhang W
Epileptic Disord 2021 Apr 1;23(2):392-396. doi: 10.1684/epd.2021.1258. PMID: 33772511
Surgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC).
Bourdillon P, Rheims S, Catenoix H, Montavont A, Ostrowsky-Coste K, Isnard J, Guénot M
Seizure 2020 Apr;77:64-68. Epub 2019 Jan 25 doi: 10.1016/j.seizure.2019.01.021. PMID: 30711397

Recent systematic reviews

Incomplete hippocampal inversion and epilepsy: A systematic review and meta-analysis.
Mutti C, Riccò M, Bartolini Y, Bernabè G, Trippi I, Melpignano A, Ciliento R, Zinno L, Florindo I, Sasso E, Odone A, Parrino L, Vaudano AE
Epilepsia 2021 Feb;62(2):383-396. Epub 2020 Dec 16 doi: 10.1111/epi.16787. PMID: 33325054
Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Epilepsy: Systematic Review of Technique, Indications, and Outcomes.
Youngerman BE, Save AV, McKhann GM
Neurosurgery 2020 Apr 1;86(4):E366-E382. doi: 10.1093/neuros/nyz556. PMID: 31980831
Stereo-electroencephalography-guided radiofrequency thermocoagulation in patients with focal epilepsy: A systematic review and meta-analysis.
Bourdillon P, Cucherat M, Isnard J, Ostrowsky-Coste K, Catenoix H, Guénot M, Rheims S
Epilepsia 2018 Dec;59(12):2296-2304. Epub 2018 Oct 21 doi: 10.1111/epi.14584. PMID: 30345535

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