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Periventricular nodular heterotopia 8(PVNH8)

MedGen UID:
1648287
•Concept ID:
C4748602
•
Disease or Syndrome
Synonyms: PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8
 
Gene (location): ARF1 (1q42.13)
 
Monarch Initiative: MONDO:0032588
OMIM®: 618185

Definition

Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (300049). [from OMIM]

Clinical features

From HPO
Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
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Cerebellar vermis atrophy
MedGen UID:
149271
•Concept ID:
C0742028
•
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
See: Feature record | Search on this feature
Periventricular nodular heterotopia
MedGen UID:
358387
•Concept ID:
C1868720
•
Disease or Syndrome
Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.
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Delayed CNS myelination
MedGen UID:
867393
•Concept ID:
C4021758
•
Anatomical Abnormality
Delayed myelination in the central nervous system.
See: Feature record | Search on this feature
Reduced cerebral white matter volume
MedGen UID:
1815057
•Concept ID:
C5706151
•
Finding
An abnormally low volume of the white matter of the brain.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Periventricular nodular heterotopia in patients with a prenatal diagnosis of myelomeningocele/myeloschisis: associations with seizures and neurodevelopmental outcomes during early childhood.
Flanders TM, Schreiber JE, Punchak MA, Land SD, Reynolds TA, Soni S, Adzick NS, Heuer GG
Childs Nerv Syst 2024 Aug;40(8):2521-2526. Epub 2024 Apr 27 doi: 10.1007/s00381-024-06424-6. PMID: 38676719
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
Clin Neurophysiol 2019 Aug;130(8):1196-1207. Epub 2019 May 9 doi: 10.1016/j.clinph.2019.04.706. PMID: 31163364

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
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):773-782. Epub 2018 Nov 1 doi: 10.1016/j.ejmg.2018.10.015. PMID: 30391507
Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
Liu W, Yan B, An D, Xiao J, Hu F, Zhou D
Epilepsy Res 2017 Jul;133:33-40. Epub 2017 Apr 4 doi: 10.1016/j.eplepsyres.2017.03.005. PMID: 28411558

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
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
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
Gana S, Casella A, Cociglio S, Tartara E, Rognone E, Giorgio E, Pichiecchio A, Orcesi S, Valente EM
J Med Genet 2022 Aug;59(8):781-784. Epub 2021 Aug 5 doi: 10.1136/jmedgenet-2021-107783. PMID: 34353862
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):773-782. Epub 2018 Nov 1 doi: 10.1016/j.ejmg.2018.10.015. PMID: 30391507
Periventricular nodular heterotopia and epilepsy.
Giannopoulos S, Pelidou SH, Giannopoulou M, Tzavidi S, Kyritsis AP
Intern Med J 2008 Aug;38(8):675-6. doi: 10.1111/j.1445-5994.2008.01752.x. PMID: 18808564

Therapy

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
Clin Neurophysiol 2019 Aug;130(8):1196-1207. Epub 2019 May 9 doi: 10.1016/j.clinph.2019.04.706. PMID: 31163364
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
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

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
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
Clin Neurophysiol 2019 Aug;130(8):1196-1207. Epub 2019 May 9 doi: 10.1016/j.clinph.2019.04.706. PMID: 31163364
The Role of FDG-PET in Patients with Epilepsy Related to Periventricular Nodular Heterotopias: Diagnostic Features and Long-Term Outcome.
Popescu CE, Mai R, Sara R, Lizio D, Zanni D, Rossetti C, Caobelli F
J Neuroimaging 2019 Jul;29(4):512-520. Epub 2019 Apr 22 doi: 10.1111/jon.12620. PMID: 31006947
The role of periventricular nodular heterotopia in epileptogenesis.
Aghakhani Y, Kinay D, Gotman J, Soualmi L, Andermann F, Olivier A, Dubeau F
Brain 2005 Mar;128(Pt 3):641-51. Epub 2005 Jan 19 doi: 10.1093/brain/awh388. PMID: 15659421
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R
Neurology 2002 Mar 26;58(6):916-21. doi: 10.1212/wnl.58.6.916. PMID: 11914408

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
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):773-782. Epub 2018 Nov 1 doi: 10.1016/j.ejmg.2018.10.015. PMID: 30391507
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
Fallil Z, Pardoe H, Bachman R, Cunningham B, Parulkar I, Shain C, Poduri A, Knowlton R, Kuzniecky R; EPGP Investigators
Epilepsy Behav 2015 Oct;51:321-7. Epub 2015 Sep 2 doi: 10.1016/j.yebeh.2015.07.041. PMID: 26340046Free PMC Article

Recent systematic reviews

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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