Format

Send to:

Choose Destination

Links from PubMed

Cortical malformations, occipital(OCCM)

MedGen UID:
481505
Concept ID:
C3279875
Disease or Syndrome
Synonyms: OCCM
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): LAMC3 (9q34.12)
OMIM®: 614115
Orphanet: ORPHA280640

Definition

Occipital cortical malformations (OCCM) is an autosomal recessive condition in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes. Three patients have been reported (summary by Barak et al., 2011). [from OMIM]

Clinical features

EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
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.
Generalized tonic-clonic seizures
MedGen UID:
505078
Concept ID:
CN001871
Finding
Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCortical malformations, occipital
Follow this link to review classifications for Cortical malformations, occipital in Orphanet.

Recent clinical studies

Etiology

Ding D, Starke RM, Quigg M, Yen CP, Przybylowski CJ, Dodson BK, Sheehan JP
World Neurosurg 2015 Sep;84(3):645-52. Epub 2015 Mar 6 doi: 10.1016/j.wneu.2015.02.039. [Epub ahead of print] PMID: 25753234
Huang SH, Chang CC, Lui CC, Chen NC, Lee CC, Wang PW, Jiang CF
Clin Nucl Med 2015 Jan;40(1):26-31. doi: 10.1097/RLU.0000000000000620. PMID: 25426755
Zielinski BA, Prigge MB, Nielsen JA, Froehlich AL, Abildskov TJ, Anderson JS, Fletcher PT, Zygmunt KM, Travers BG, Lange N, Alexander AL, Bigler ED, Lainhart JE
Brain 2014 Jun;137(Pt 6):1799-812. Epub 2014 Apr 22 doi: 10.1093/brain/awu083. [Epub ahead of print] PMID: 24755274Free PMC Article
Savic I, Arver S
Cereb Cortex 2014 Dec;24(12):3246-57. Epub 2013 Aug 7 doi: 10.1093/cercor/bht180. [Epub ahead of print] PMID: 23926114
Skranes J, Løhaugen GC, Martinussen M, Håberg A, Brubakk AM, Dale AM
Cortex 2013 Sep;49(8):2264-71. Epub 2013 Jun 19 doi: 10.1016/j.cortex.2013.06.001. [Epub ahead of print] PMID: 23845237

Diagnosis

Zhang S, Wang B, Xie Y, Zhu S, Thomas R, Qing G, Zhang C, Wang N
Invest Ophthalmol Vis Sci 2015 Sep;56(10):6171-8. doi: 10.1167/iovs.15-17286. PMID: 26406275
Shakespeare TJ, Kaski D, Yong KX, Paterson RW, Slattery CF, Ryan NS, Schott JM, Crutch SJ
Brain 2015 Jul;138(Pt 7):1976-91. Epub 2015 Apr 19 doi: 10.1093/brain/awv103. [Epub ahead of print] PMID: 25895507Free PMC Article
Ding D, Starke RM, Quigg M, Yen CP, Przybylowski CJ, Dodson BK, Sheehan JP
World Neurosurg 2015 Sep;84(3):645-52. Epub 2015 Mar 6 doi: 10.1016/j.wneu.2015.02.039. [Epub ahead of print] PMID: 25753234
Huang SH, Chang CC, Lui CC, Chen NC, Lee CC, Wang PW, Jiang CF
Clin Nucl Med 2015 Jan;40(1):26-31. doi: 10.1097/RLU.0000000000000620. PMID: 25426755
Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M
Pediatr Neurol 2014 Dec;51(6):806-813.e8. Epub 2014 Sep 4 doi: 10.1016/j.pediatrneurol.2014.08.025. [Epub ahead of print] PMID: 25456301

Therapy

Zhang S, Wang B, Xie Y, Zhu S, Thomas R, Qing G, Zhang C, Wang N
Invest Ophthalmol Vis Sci 2015 Sep;56(10):6171-8. doi: 10.1167/iovs.15-17286. PMID: 26406275
Giakoumatos CI, Nanda P, Mathew IT, Tandon N, Shah J, Bishop JR, Clementz BA, Pearlson GD, Sweeney JA, Tamminga CA, Keshavan MS
J Psychiatr Res 2015 Feb;61:180-7. Epub 2014 Dec 23 doi: 10.1016/j.jpsychires.2014.12.008. [Epub ahead of print] PMID: 25563516
Yis U, Topcu Y, Bayram E, Karakaya P, Cakmakci H, Kurul SH
J Child Neurol 2014 Jan;29(1):114-7. Epub 2012 Dec 5 doi: 10.1177/0883073812467690. [Epub ahead of print] PMID: 23220795
Mackin RS, Tosun D, Mueller SG, Lee JY, Insel P, Schuff N, Truran-Sacrey D, Arean P, Nelson JC, Weiner MW
Am J Geriatr Psychiatry 2013 Aug;21(8):794-802. Epub 2013 Feb 6 doi: 10.1097/JGP.0b013e31825485a1. [Epub ahead of print] PMID: 23567394Free PMC Article
Lepage JF, Mazaika PK, Hong DS, Raman M, Reiss AL
Cereb Cortex 2013 Sep;23(9):2159-68. Epub 2012 Jul 17 doi: 10.1093/cercor/bhs195. [Epub ahead of print] PMID: 22806268Free PMC Article

Prognosis

Ding D, Starke RM, Quigg M, Yen CP, Przybylowski CJ, Dodson BK, Sheehan JP
World Neurosurg 2015 Sep;84(3):645-52. Epub 2015 Mar 6 doi: 10.1016/j.wneu.2015.02.039. [Epub ahead of print] PMID: 25753234
Klaver P, Latal B, Martin E
Neuropsychologia 2015 Jan;67:41-54. Epub 2014 Nov 29 doi: 10.1016/j.neuropsychologia.2014.10.030. [Epub ahead of print] PMID: 25458481
Imai M, Watanabe H, Yasui K, Kimura Y, Shitara Y, Tsuchida S, Takahashi N, Taga G
Neuroimage 2014 Jan 15;85 Pt 1:272-8. Epub 2013 Apr 28 doi: 10.1016/j.neuroimage.2013.04.080. [Epub ahead of print] PMID: 23631984
Qiu A, Gan SC, Wang Y, Sim K
Psychol Med 2013 Jul;43(7):1353-63. Epub 2012 Nov 28 doi: 10.1017/S0033291712002218. [Epub ahead of print] PMID: 23186886
Fan Q, Palaniyappan L, Tan L, Wang J, Wang X, Li C, Zhang T, Jiang K, Xiao Z, Liddle PF
Psychol Med 2013 May;43(5):1081-91. Epub 2012 Aug 31 doi: 10.1017/S0033291712001845. [Epub ahead of print] PMID: 22935427

Clinical prediction guides

Ding D, Starke RM, Quigg M, Yen CP, Przybylowski CJ, Dodson BK, Sheehan JP
World Neurosurg 2015 Sep;84(3):645-52. Epub 2015 Mar 6 doi: 10.1016/j.wneu.2015.02.039. [Epub ahead of print] PMID: 25753234
Giakoumatos CI, Nanda P, Mathew IT, Tandon N, Shah J, Bishop JR, Clementz BA, Pearlson GD, Sweeney JA, Tamminga CA, Keshavan MS
J Psychiatr Res 2015 Feb;61:180-7. Epub 2014 Dec 23 doi: 10.1016/j.jpsychires.2014.12.008. [Epub ahead of print] PMID: 25563516
Strawn JR, John Wegman C, Dominick KC, Swartz MS, Wehry AM, Patino LR, Strakowski SM, Adler CM, Eliassen JC, DelBello MP
J Anxiety Disord 2014 Oct;28(7):717-23. Epub 2014 Aug 12 doi: 10.1016/j.janxdis.2014.07.012. [Epub ahead of print] PMID: 25155256
Zielinski BA, Prigge MB, Nielsen JA, Froehlich AL, Abildskov TJ, Anderson JS, Fletcher PT, Zygmunt KM, Travers BG, Lange N, Alexander AL, Bigler ED, Lainhart JE
Brain 2014 Jun;137(Pt 6):1799-812. Epub 2014 Apr 22 doi: 10.1093/brain/awu083. [Epub ahead of print] PMID: 24755274Free PMC Article
Fan Q, Palaniyappan L, Tan L, Wang J, Wang X, Li C, Zhang T, Jiang K, Xiao Z, Liddle PF
Psychol Med 2013 May;43(5):1081-91. Epub 2012 Aug 31 doi: 10.1017/S0033291712001845. [Epub ahead of print] PMID: 22935427

Recent systematic reviews

Miller CH, Hamilton JP, Sacchet MD, Gotlib IH
JAMA Psychiatry 2015 Oct;72(10):1045-53. doi: 10.1001/jamapsychiatry.2015.1376. PMID: 26332700
Spittau B, Millán DS, El-Sherifi S, Hader C, Singh TP, Motschall E, Vach W, Urbach H, Meckel S
J Neurosurg 2015 Apr;122(4):883-903. Epub 2014 Nov 21 doi: 10.3171/2014.10.JNS14377. [Epub ahead of print] PMID: 25415064
Yang PF, Jia YZ, Lin Q, Mei Z, Chen ZQ, Zheng ZY, Zhang HJ, Pei JS, Tian J, Zhong ZH
Acta Neurochir (Wien) 2015 Jan;157(1):63-75. Epub 2014 Oct 3 doi: 10.1007/s00701-014-2217-3. [Epub ahead of print] PMID: 25278241
Piras F, Piras F, Chiapponi C, Girardi P, Caltagirone C, Spalletta G
Cortex 2015 Jan;62:89-108. Epub 2013 Feb 26 doi: 10.1016/j.cortex.2013.01.016. [Epub ahead of print] PMID: 23582297
Chen DJ, Severson E, Prayson RA
Clin Neuropathol 2013 Jan-Feb;32(1):31-6. doi: 10.5414/NP300535. PMID: 23036310

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...