Atypical male and female presentations of FLNA-related periventricular nodular heterotopia

Patricia Fergelot, Isabelle Coupry, Caroline Rooryck, Julie Deforges, Elise Maurat, Guilhem Solé, Odile Boute, Anne Dieux-Coeslier, Albert David, Cécile Marchal, Jean-Benoit Thambo, Didier Lacombe, Benoit Arveiler, Cyril Goizet
European Journal of Medical Genetics. 2012-05-01; 55(5): 313-318
DOI: 10.1016/J.EJMG.2012.01.018

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1. Eur J Med Genet. 2012 May;55(5):313-8. doi: 10.1016/j.ejmg.2012.01.018. Epub 2012
Feb 8.

Atypical male and female presentations of FLNA-related periventricular nodular

Fergelot P(1), Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O,
Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C.

Author information:
(1)CHU Bordeaux, Centre de référence des anomalies du développement embryonnaire,
Service de Génétique Médicale, Bordeaux, France.

Periventricular nodular heterotopia, the most common form of cortical
malformation in adulthood, is characterized by nodules of neurons ectopically
placed along the lateral ventricles. Classically, ectopic nodules are bilateral
and symmetric defining bilateral periventricular nodular heterotopia (BPNH). BPNH
can lead to epilepsy and intellectual disability of variable severity. The
X-linked dominant form of BPNH, related to mutations in FLNA encoding filamin A,
is the major cause of BPNH, causing prenatal and neonatal lethality in males that
explain the excess of affected women. However, few living males have been
described with this condition. In addition, mutations in FLNA have been also
exceptionally associated with unilateral nodular heterotopia. We describe here
three new patients, all carrying a novel missense mutation in FLNA. Two of the
patients were adult males with BPNH; both had normal cognitive development and
one did not manifest any seizure until he died at age 57. The last patient was a
female adult with epilepsy and focal nodules essentially located along the right
ventricle. We compare the clinical and imaging data of our patients with those of
previously described similar cases. The type and location of FLNA mutations
leading to such atypical presentations are discussed.

Copyright © 2012 Elsevier Masson SAS. All rights reserved.

DOI: 10.1016/j.ejmg.2012.01.018
PMID: 22366253 [Indexed for MEDLINE]

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