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Type 1 schizencephaly

MedGen UID:
1814208
Concept ID:
C5676630
Congenital Abnormality
Synonym: Trans-mantle schizencephaly
 
HPO: HP:0025702

Definition

A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

Recent clinical studies

Etiology

George E, Vassar R, Mogga A, Li Y, Norton ME, Gano D, Glenn OA
Pediatr Neurol 2023 Oct;147:63-67. Epub 2023 Jul 18 doi: 10.1016/j.pediatrneurol.2023.07.008. PMID: 37562171
Kim HJ, Koo YS, Yum MS, Ko TS, Lee SA
Seizure 2022 May;98:95-100. Epub 2022 Apr 6 doi: 10.1016/j.seizure.2022.04.002. PMID: 35462301
Nakamura Y, Okanishi T, Yamada H, Okazaki T, Hosoda C, Itai T, Miyatake S, Saitsu H, Matsumoto N, Maegaki Y
Brain Dev 2021 Nov;43(10):1033-1038. Epub 2021 Jul 17 doi: 10.1016/j.braindev.2021.06.008. PMID: 34281745
Hung PC, Wang HS, Chou ML, Lin KL, Hsieh MY, Chou IJ, Wong AM
Pediatr Neonatol 2018 Dec;59(6):573-580. Epub 2018 Jan 6 doi: 10.1016/j.pedneo.2018.01.009. PMID: 29371079
Zhang J, Yang Z, Yang Z, He X, Hou Y, Wang Y
Neurol Sci 2016 Jul;37(7):1079-88. Epub 2016 Mar 10 doi: 10.1007/s10072-016-2543-8. PMID: 26966118

Diagnosis

Kim HJ, Koo YS, Yum MS, Ko TS, Lee SA
Seizure 2022 May;98:95-100. Epub 2022 Apr 6 doi: 10.1016/j.seizure.2022.04.002. PMID: 35462301
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N
J Med Genet 2021 Aug;58(8):505-513. Epub 2020 Jul 30 doi: 10.1136/jmedgenet-2020-106896. PMID: 32732225
Maurice P, Guilbaud L, Garel J, Mine M, Dugas A, Friszer S, Maisonneuve E, Moutard ML, Coste T, Héron D, Tournier-Lasserve E, Garel C, Jouannic JM
Ultrasound Obstet Gynecol 2021 May;57(5):783-789. doi: 10.1002/uog.22106. PMID: 32515830
Lopes CF, Cendes F, Piovesana AM, Torres F, Lopes-Cendes I, Montenegro MA, Guerreiro MM
J Child Neurol 2006 Sep;21(9):757-60. doi: 10.1177/08830738060210090501. PMID: 16970881
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

Therapy

Deguchi K, Saka R, Todo M, Toyama C, Watanabe M, Masahata K, Kamiyama M, Tazuke Y, Nabatame S, Itai T, Miyatake S, Matsumoto N, Okuyama H
Asian J Endosc Surg 2024 Jan;17(1):e13269. Epub 2023 Dec 6 doi: 10.1111/ases.13269. PMID: 38058103
Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S, Matsumoto N, Fujii Y
World Neurosurg 2019 Jul;127:446-450. Epub 2019 Apr 25 doi: 10.1016/j.wneu.2019.04.156. PMID: 31029817
Lopes CF, Cendes F, Piovesana AM, Torres F, Lopes-Cendes I, Montenegro MA, Guerreiro MM
J Child Neurol 2006 Sep;21(9):757-60. doi: 10.1177/08830738060210090501. PMID: 16970881

Prognosis

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
Hung PC, Wang HS, Chou ML, Lin KL, Hsieh MY, Chou IJ, Wong AM
Pediatr Neonatol 2018 Dec;59(6):573-580. Epub 2018 Jan 6 doi: 10.1016/j.pedneo.2018.01.009. PMID: 29371079
Zhang J, Yang Z, Yang Z, He X, Hou Y, Wang Y
Neurol Sci 2016 Jul;37(7):1079-88. Epub 2016 Mar 10 doi: 10.1007/s10072-016-2543-8. PMID: 26966118
Araujo Júnior E, Leite AP, Pires CR, Guimarães Filho HA, Zanforlin Filho SM, Nardozza LM, Moron AF
J Clin Ultrasound 2007 Jul-Aug;35(6):351-5. doi: 10.1002/jcu.20285. PMID: 17410584

Clinical prediction guides

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
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N
J Med Genet 2021 Aug;58(8):505-513. Epub 2020 Jul 30 doi: 10.1136/jmedgenet-2020-106896. PMID: 32732225
Hung PC, Wang HS, Chou ML, Lin KL, Hsieh MY, Chou IJ, Wong AM
Pediatr Neonatol 2018 Dec;59(6):573-580. Epub 2018 Jan 6 doi: 10.1016/j.pedneo.2018.01.009. PMID: 29371079
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

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