Table 3a.

Disorders That May Be Associated with Periventricular Nodular Heterotopia (PVNH)

Gene(s)DisorderMOIComment
ARF1 PVNH8 (OMIM 618185)AD
ARFGEF2 PVNH2 (OMIM 608097)ARReported in 2 Turkish families w/PVNH & microcephaly 1 & in a female w/a movement disorder, neuronal migration disorder, & acquired microcephaly 2
EML1 Band heterotopia (OMIM 600348)ARMegalencephaly, ribbon-like subcortical band heterotopia, severe developmental delay
FMR1 Fragile X syndrome (See FMR1 Disorders.)XLPVNH (unilateral/bilateral & isolated) reported in 2 boys w/fragile X syndrome 3 (PVNH is very rare in fragile X syndrome.)
MAP1B PVNH9 (OMIM 618918)ADSee footnote 4.
TSC1
TSC2 		Tuberous sclerosis complex (TSC)ADPVNH may be misdiagnosed initially as TSC; however, MRI findings distinguish the disorders

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked

1.
2.
3.
4.

From: FLNA Deficiency

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