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Type 2 schizencephaly

MedGen UID:
1814209
Concept ID:
C5676631
Congenital Abnormality
HPO: HP:0025703

Definition

A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. [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

Hu C, Liu D, Wang H
Int J Med Sci 2024;21(9):1756-1768. Epub 2024 Jul 2 doi: 10.7150/ijms.97164. PMID: 39006838Free PMC Article
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
Gaines JJ, Gilbert BC, Gossage JR, Parker W, Reddy A, Forseen SE
AJNR Am J Neuroradiol 2022 Nov;43(11):1603-1607. Epub 2022 Oct 20 doi: 10.3174/ajnr.A7677. PMID: 36265891Free PMC Article
Kopyta I, Skrzypek M, Raczkiewicz D, Bojar I, Sarecka-Hujar B
Ann Agric Environ Med 2020 Jun 19;27(2):279-283. Epub 2020 Jun 2 doi: 10.26444/aaem/122796. PMID: 32588606
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771

Diagnosis

Hu C, Liu D, Wang H
Int J Med Sci 2024;21(9):1756-1768. Epub 2024 Jul 2 doi: 10.7150/ijms.97164. PMID: 39006838Free 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
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
Liang JS, Chien YH, Hwu WL, Yeh SJ, Peng SF
Pediatr Neurol 2009 Jul;41(1):71-3. doi: 10.1016/j.pediatrneurol.2009.02.015. PMID: 19520282
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

Therapy

Kobayashi Y, Ishikawa N, Tani H, Fujii Y, Kobayashi M
Neuropediatrics 2017 Apr;48(2):119-122. Epub 2017 Jan 23 doi: 10.1055/s-0037-1598111. PMID: 28114705
Montenegro MA, Cendes F, Lopes-Cendes I, Guerreiro CA, Li LM, Guerreiro MM
Arq Neuropsiquiatr 2007 Jun;65(2A):196-201. doi: 10.1590/s0004-282x2007000200002. PMID: 17607413
Sitnikov AR
Rural Remote Health 2007 Apr-Jun;7(2):661. Epub 2007 May 1 PMID: 17472441
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

Kopyta I, Skrzypek M, Raczkiewicz D, Bojar I, Sarecka-Hujar B
Ann Agric Environ Med 2020 Jun 19;27(2):279-283. Epub 2020 Jun 2 doi: 10.26444/aaem/122796. PMID: 32588606

Clinical prediction guides

Yoon JY, Kim DS, Kim GW, Ko MH, Seo JH, Won YH, Park SH
Biomed Res Int 2021;2021:9956609. Epub 2021 Sep 6 doi: 10.1155/2021/9956609. PMID: 34527746Free 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
Kopyta I, Skrzypek M, Raczkiewicz D, Bojar I, Sarecka-Hujar B
Ann Agric Environ Med 2020 Jun 19;27(2):279-283. Epub 2020 Jun 2 doi: 10.26444/aaem/122796. PMID: 32588606
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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