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Gene Review

MEHMO  -  mental retardation, epileptic seizures,...

Homo sapiens

 
 
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Disease relevance of MEHMO

 

Psychiatry related information on MEHMO

 

High impact information on MEHMO

 

Chemical compound and disease context of MEHMO

 

Biological context of MEHMO

 

Anatomical context of MEHMO

  • Mild HPE can consist of signs such as a single central incisor, hypotelorism, microcephaly, or other craniofacial findings that can be present with or without associated brain malformations [22].
  • Humans with autosomal recessive primary microcephaly (MCPH) show a small but otherwise grossly normal cerebral cortex associated with mild to moderate mental retardation [23].
  • Several years ago, we described two patients with infantile seizures, delayed development and acquired microcephaly who have normal circulating blood glucose, low-to-normal cerebrospinal fluid (CSF) lactate, but persistent hypoglycorrachia (low CSF glucose) and diminished transport of hexose into isolated red blood cells (RBC) [24].
  • Disruption of human neural precursor proliferation can give rise to a small brain (microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative zones near the lateral ventricles (periventricular heterotopia) [11].
  • Functional analysis shows that the mutant DNC protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes MCPHA [17].
 

Associations of MEHMO with chemical compounds

 

Other interactions of MEHMO

 

Analytical, diagnostic and therapeutic context of MEHMO

References

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  17. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Rosenberg, M.J., Agarwala, R., Bouffard, G., Davis, J., Fiermonte, G., Hilliard, M.S., Koch, T., Kalikin, L.M., Makalowska, I., Morton, D.H., Petty, E.M., Weber, J.L., Palmieri, F., Kelley, R.I., Schäffer, A.A., Biesecker, L.G. Nat. Genet. (2002) [Pubmed]
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  22. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Wallis, D.E., Roessler, E., Hehr, U., Nanni, L., Wiltshire, T., Richieri-Costa, A., Gillessen-Kaesbach, G., Zackai, E.H., Rommens, J., Muenke, M. Nat. Genet. (1999) [Pubmed]
  23. ASPM is a major determinant of cerebral cortical size. Bond, J., Roberts, E., Mochida, G.H., Hampshire, D.J., Scott, S., Askham, J.M., Springell, K., Mahadevan, M., Crow, Y.J., Markham, A.F., Walsh, C.A., Woods, C.G. Nat. Genet. (2002) [Pubmed]
  24. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Seidner, G., Alvarez, M.G., Yeh, J.I., O'Driscoll, K.R., Klepper, J., Stump, T.S., Wang, D., Spinner, N.B., Birnbaum, M.J., De Vivo, D.C. Nat. Genet. (1998) [Pubmed]
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