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Posterior predominant subcortical band heterotopia

MedGen UID:
1691332
Concept ID:
C5139325
Disease or Syndrome
Synonyms: Occipital subcortical band heterotopia; Subcortical band heterotopia posterior predominant
 
HPO: HP:0032411

Definition

Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior predominant subcortical band heterotopia

Conditions with this feature

Lissencephaly 10
MedGen UID:
1719546
Concept ID:
C5394354
Disease or Syndrome
Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).

Recent clinical studies

Etiology

Guerrini R, Marini C
Exp Brain Res 2006 Aug;173(2):322-33. Epub 2006 May 25 doi: 10.1007/s00221-006-0501-z. PMID: 16724181

Diagnosis

Bahi-Buisson N, Guerrini R
Handb Clin Neurol 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. PMID: 23622213
Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N
Arch Neurol 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. PMID: 19667223
Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R
Neurology 2003 Oct 28;61(8):1042-6. doi: 10.1212/wnl.61.8.1042. PMID: 14581661

Prognosis

Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N
Arch Neurol 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. PMID: 19667223

Clinical prediction guides

Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N
Arch Neurol 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. PMID: 19667223

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