Abstract
We describe two brothers with ring chromosome 17 presenting very different fenotypes. The first one is a 27 years-old female affected by refractory epilepsy, psychomotor impairment, dysmorphic features, milk and coffee skin spots; the brain MRI showed focal dysplasia in the right frontal lobe. Her brother is 11 years old and presented only one focal seizure; neurological and psychic examinations were normal; brain MRI showed leucomalacia in both occipital lobes.
| Original language | Italian |
|---|---|
| Pages (from-to) | 176-178 |
| Number of pages | 3 |
| Journal | Bollettino - Lega Italiana contro l'Epilessia |
| Issue number | 144 |
| Publication status | Published - May 2012 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
Cromosoma 17 ad anello ed epilessia : Report di due fratelli con fenotipo clinico discordante. / Serpino, C.; Francavilla, T.; La Neve, A.; Pezzella, M.; Pietrafusa, N.; Durante, V.; Pontrelli, G.; Lisi, T.; Ladogana, M.; Lamberti, P.; Boero, G.; Striano, P.
In: Bollettino - Lega Italiana contro l'Epilessia, No. 144, 05.2012, p. 176-178.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cromosoma 17 ad anello ed epilessia
T2 - Report di due fratelli con fenotipo clinico discordante
AU - Serpino, C.
AU - Francavilla, T.
AU - La Neve, A.
AU - Pezzella, M.
AU - Pietrafusa, N.
AU - Durante, V.
AU - Pontrelli, G.
AU - Lisi, T.
AU - Ladogana, M.
AU - Lamberti, P.
AU - Boero, G.
AU - Striano, P.
PY - 2012/5
Y1 - 2012/5
N2 - We describe two brothers with ring chromosome 17 presenting very different fenotypes. The first one is a 27 years-old female affected by refractory epilepsy, psychomotor impairment, dysmorphic features, milk and coffee skin spots; the brain MRI showed focal dysplasia in the right frontal lobe. Her brother is 11 years old and presented only one focal seizure; neurological and psychic examinations were normal; brain MRI showed leucomalacia in both occipital lobes.
AB - We describe two brothers with ring chromosome 17 presenting very different fenotypes. The first one is a 27 years-old female affected by refractory epilepsy, psychomotor impairment, dysmorphic features, milk and coffee skin spots; the brain MRI showed focal dysplasia in the right frontal lobe. Her brother is 11 years old and presented only one focal seizure; neurological and psychic examinations were normal; brain MRI showed leucomalacia in both occipital lobes.
KW - Epilepsy
KW - Focal dysplasia
KW - Ring chromosome 17
UR - http://www.scopus.com/inward/record.url?scp=84887222547&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84887222547&partnerID=8YFLogxK
M3 - Articolo
AN - SCOPUS:84887222547
SP - 176
EP - 178
JO - Bollettino - Lega Italiana contro l'Epilessia
JF - Bollettino - Lega Italiana contro l'Epilessia
SN - 0394-560X
IS - 144
ER -