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INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES(IDDPMGS)

MedGen UID:
1056527
•Concept ID:
CN378838
•
Disease or Syndrome
Synonym: IDDPMGS
 
Gene (location): TCP1 (6q25.3)
 
OMIM®: 621021

Definition

Intellectual developmental disorder with polymicrogyria and seizures (IDDPMGS) is a neurologic disorder characterized by developmental delay of varying severity, mildly impaired intellectual development that sometimes requires special schooling, seizures, and polymicrogyria on brain imaging. These specific features are based on the clinical and genetic information of 4 individuals who had clear phenotypes and likely pathogenic de novo heterozygous loss-of-function mutations in the CCT1 gene. Additional individuals with heterozygous variants in the CCT1 gene did not consistently show these features, suggesting a wide phenotypic range or variable penetrance (Kraft et al., 2024). [from OMIM]

Professional guidelines

PubMed

Treatment of epilepsy in severely disabled children with bilateral brain malformations.
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389

Recent clinical studies

Etiology

Long-term Outcome of Epilepsy and Cortical Malformations Due to Abnormal Migration and Postmigrational Development: A Cohort Study.
Licchetta L, Vignatelli L, Toni F, Teglia A, Belotti LMB, Ferri L, Menghi V, Mostacci B, Di Vito L, Bisulli F, Tinuper P
Neurology 2022 Jul 5;99(1):e23-e32. Epub 2022 Apr 11 doi: 10.1212/WNL.0000000000200352. PMID: 35410907
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB
Am J Hum Genet 2020 Dec 3;107(6):1170-1177. Epub 2020 Nov 23 doi: 10.1016/j.ajhg.2020.11.001. PMID: 33232677Free PMC Article
Voxel-based morphometry and intellectual assessment in patients with congenital bilateral perisylvian syndrome.
Yasuda CL, Guimarães CA, Guerreiro MM, Boscariol M, Oliveira EP, Teixeira KC, Costa AL, Beltramini GC, Cendes F
J Neurol 2014 Jul;261(7):1374-80. Epub 2014 Apr 30 doi: 10.1007/s00415-014-7356-1. PMID: 24781839
Complete remission of seizures after corpus callosotomy.
Iwasaki M, Uematsu M, Sato Y, Nakayama T, Haginoya K, Osawa S, Itabashi H, Jin K, Nakasato N, Tominaga T
J Neurosurg Pediatr 2012 Jul;10(1):7-13. Epub 2012 Jun 8 doi: 10.3171/2012.3.PEDS11544. PMID: 22681320
Bilateral perisylvian polymicrogyria with cerebellar dysplasia and ectopic neurohypophysis.
Toldo I, Calderone M, Sartori S, Mardari R, Gatta M, Boniver C, Guerrini R, Battistella PA
J Child Neurol 2011 Mar;26(3):361-5. Epub 2011 Jan 27 doi: 10.1177/0883073810381447. PMID: 21273507

Diagnosis

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.
Bonardi CM, Bayat A, Madsen CG, Hammer TB, Reale C, Gardella E, Marjanovic D, Beniczky S, Møller RS, Rubboli G
Epileptic Disord 2022 Jun 1;24(3):577-582. doi: 10.1684/epd.2022.1423. PMID: 35770758
Symptomatic eating epilepsy: two novel pediatric patients and review of literature.
Vercellino F, Siri L, Brisca G, Scala M, Riva A, Severino M, Striano P
Ital J Pediatr 2021 Jun 12;47(1):137. doi: 10.1186/s13052-021-01051-2. PMID: 34118959Free PMC Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L
Am J Med Genet A 2020 Oct;182(10):2207-2213. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61795. PMID: 33001581
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.
Chang BS, Apse KA, Caraballo R, Cross JH, Mclellan A, Jacobson RD, Valente KD, Barkovich AJ, Walsh CA
Neurology 2006 Jan 10;66(1):133-5. doi: 10.1212/01.wnl.0000191393.06679.e9. PMID: 16401865
Malformations of cortical development in neurofibromatosis type 1.
Balestri P, Vivarelli R, Grosso S, Santori L, Farnetani MA, Galluzzi P, Vatti GP, Calabrese F, Morgese G
Neurology 2003 Dec 23;61(12):1799-801. doi: 10.1212/01.wnl.0000099080.90726.ba. PMID: 14694053

Therapy

Long-term Outcome of Epilepsy and Cortical Malformations Due to Abnormal Migration and Postmigrational Development: A Cohort Study.
Licchetta L, Vignatelli L, Toni F, Teglia A, Belotti LMB, Ferri L, Menghi V, Mostacci B, Di Vito L, Bisulli F, Tinuper P
Neurology 2022 Jul 5;99(1):e23-e32. Epub 2022 Apr 11 doi: 10.1212/WNL.0000000000200352. PMID: 35410907
Symptomatic eating epilepsy: two novel pediatric patients and review of literature.
Vercellino F, Siri L, Brisca G, Scala M, Riva A, Severino M, Striano P
Ital J Pediatr 2021 Jun 12;47(1):137. doi: 10.1186/s13052-021-01051-2. PMID: 34118959Free PMC Article
Treatment of epilepsy in severely disabled children with bilateral brain malformations.
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389
Congenital bilateral perisylvian syndrome: analysis of the first four reported Korean patients.
Kim HI, Palmini A, Choi HY, Kim YH, Lee JC
J Korean Med Sci 1994 Aug;9(4):335-40. doi: 10.3346/jkms.1994.9.4.335. PMID: 7848582Free PMC Article
Infantile spasms: an early epileptic manifestation in some patients with the congenital bilateral perisylvian syndrome.
Kuzniecky R, Andermann F, Guerrini R
J Child Neurol 1994 Oct;9(4):420-3. doi: 10.1177/088307389400900418. PMID: 7822736

Prognosis

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
Thulasirajah S, Wang X, Sell E, Dávila J, Dyment DA, Kernohan KD
Genes (Basel) 2022 Dec 29;14(1) doi: 10.3390/genes14010108. PMID: 36672848Free PMC Article
Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.
Bonardi CM, Bayat A, Madsen CG, Hammer TB, Reale C, Gardella E, Marjanovic D, Beniczky S, Møller RS, Rubboli G
Epileptic Disord 2022 Jun 1;24(3):577-582. doi: 10.1684/epd.2022.1423. PMID: 35770758
Long-term Outcome of Epilepsy and Cortical Malformations Due to Abnormal Migration and Postmigrational Development: A Cohort Study.
Licchetta L, Vignatelli L, Toni F, Teglia A, Belotti LMB, Ferri L, Menghi V, Mostacci B, Di Vito L, Bisulli F, Tinuper P
Neurology 2022 Jul 5;99(1):e23-e32. Epub 2022 Apr 11 doi: 10.1212/WNL.0000000000200352. PMID: 35410907
Symptomatic eating epilepsy: two novel pediatric patients and review of literature.
Vercellino F, Siri L, Brisca G, Scala M, Riva A, Severino M, Striano P
Ital J Pediatr 2021 Jun 12;47(1):137. doi: 10.1186/s13052-021-01051-2. PMID: 34118959Free PMC Article
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
Neurology 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. PMID: 15159468

Clinical prediction guides

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
Thulasirajah S, Wang X, Sell E, Dávila J, Dyment DA, Kernohan KD
Genes (Basel) 2022 Dec 29;14(1) doi: 10.3390/genes14010108. PMID: 36672848Free PMC Article
Long-term Outcome of Epilepsy and Cortical Malformations Due to Abnormal Migration and Postmigrational Development: A Cohort Study.
Licchetta L, Vignatelli L, Toni F, Teglia A, Belotti LMB, Ferri L, Menghi V, Mostacci B, Di Vito L, Bisulli F, Tinuper P
Neurology 2022 Jul 5;99(1):e23-e32. Epub 2022 Apr 11 doi: 10.1212/WNL.0000000000200352. PMID: 35410907
Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.
Zulfiqar S, Tariq M, Ramzan S, Khan A, Sher M, Ali Z, Dahl N, Abdullah U, Mahmood Baig S
J Clin Neurosci 2021 Dec;94:8-12. Epub 2021 Sep 30 doi: 10.1016/j.jocn.2021.09.027. PMID: 34863467
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L
Am J Med Genet A 2020 Oct;182(10):2207-2213. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61795. PMID: 33001581
Malformations of cortical development and epilepsy in adult patients.
Papayannis CE, Consalvo D, Kauffman MA, Seifer G, Oddo S, D'Alessio L, Saidon P, Kochen S
Seizure 2012 Jun;21(5):377-84. Epub 2012 Apr 16 doi: 10.1016/j.seizure.2012.03.009. PMID: 22513002

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