Abstract
| Original language | English |
|---|---|
| Article number | 108315 |
| Number of pages | 11 |
| Journal | Epilepsy Behav. |
| Volume | 124 |
| DOIs | |
| Publication status | Published - 2021 |
Keywords
- Age dependent pattern
- Genetic epilepsy
- MWS
- ZEB2
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Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals : Epilepsy and Behavior. / Ricci, E.; Fetta, A.; Garavelli, L. et al.
In: Epilepsy Behav., Vol. 124, 108315, 2021.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
T2 - Epilepsy and Behavior
AU - Ricci, E.
AU - Fetta, A.
AU - Garavelli, L.
AU - Caraffi, S.
AU - Ivanovski, I.
AU - Bonanni, P.
AU - Accorsi, P.
AU - Giordano, L.
AU - Pantaleoni, C.
AU - Romeo, A.
AU - Arena, A.
AU - Bonetti, S.
AU - Boni, A.
AU - Chiarello, D.
AU - Di Pisa, V.
AU - Epifanio, R.
AU - Faravelli, F.
AU - Finardi, E.
AU - Fiumara, A.
AU - Grioni, D.
AU - Mammi, I.
AU - Negrin, S.
AU - Osanni, E.
AU - Raviglione, F.
AU - Rivieri, F.
AU - Rizzi, R.
AU - Savasta, S.
AU - Tarani, L.
AU - Dormi, A.
AU - Zanotta, N.
AU - Dormi, A.
AU - Vignoli, A.
AU - Canevini, M.
AU - Cordelli, D.M.
AU - Mowat Wilson Epilepsy Study Group
N1 - Export Date: 19 November 2021 CODEN: EBPEA Correspondence Address: Fetta, A.; UOC Neuropsichiatria dell'Età Pediatrica, 11 Massarenti Street, Italy; email: anna.fetta@studio.unibo.it References: Ivanovski, I., Djuric, O., Caraffi, S.G., Santodirocco, D., Pollazzon, M., Rosato, S., Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (2018) Genet Med, 20, pp. 965-975; Mowat, D.R., Wilson, M.J., Goossens, M., Mowat-Wilson syndrome (2003) J Med Genet, 40, pp. 305-310; Garavelli, L., Ivanovski, I., Caraffi, S.G., Santodirocco, D., Pollazzon, M., Cordelli, D.M., Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients (2017) Genet Med, 19, pp. 691-700; Mowat, D.R., Croaker, G.D., Cass, D.T., Kerr, B.A., Chaitow, J., Ades, L.C., Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 (1998) J Med Genet, 35, pp. 617-623; Epifanova, E., Babaev, A., Newman, A.G., Tarabykin, V., Role of Zeb2/Sip1 in neuronal development (2019) Brain Res, 1705, pp. 24-31; Ghoumid, J., Drevillon, L., Alavi-Naini, S.M., Bondurand, N., Rio, M., Briand-Suleau, A., ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome. Hum Mol Genet 2013;22:2652–61. 10.1093/hmg/ddt114; Yamada, Y., Nomura, N., Yamada, K., Matsuo, M., Suzuki, Y., Sameshima, K., The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations (2014) Am J Med Genet Part A, 164, pp. 1899-1908; Cordelli, D.M., Garavelli, L., Savasta, S., Guerra, A., Pellicciari, A., Giordano, L., Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype (2013) Am J Med Genet Part A, 161, pp. 273-284; Seo, S.E., Kim, S.H., Lee, S.T., Choi, J.R., Lee, J.S., Kim, H.D., Mowat-Wilson syndrome presenting with fever-associated seizures. 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Epilepsia 2010;51:1069–77. 10.1111/J.1528-1167.2009.02397.X; Garavelli, L., Mainardi, P.C., Mowat-Wilson syndrome (2007) Orphanet J Rare Dis, 2, pp. 1-12; Garavelli, L., Zollino, M., Mainardi, P.C., Gurrieri, F., Rivieri, F., Soli, F., Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature (2009) Am J Med Genet A, 149A, pp. 417-426; Adam, M.P., Schelley, S., Gallagher, R., Brady, A.N., Barr, K., Blumberg, B., Clinical features and management issues in Mowat-Wilson syndrome (2006) Am J Med Genet Part A, 140A, pp. 2730-2741; Dastot-Le Moal, F., Wilson, M., Mowat, D., Collot, N., Niel, F., Goossens, M., ZFHX1B mutations in patients with Mowat-Wilson syndrome (2007) Hum Mutat, 28, pp. 313-321; Paz, J.A.D., Kim, C.A., Goossens, M., Giurgea, I., Marques-Dias, M.J., Mowat-Wilson syndrome: neurological and molecular study in seven patients (2015) Arq Neuropsiquiatr, 73, pp. 12-17; Ishihara, N., Yamada, K., Yamada, Y., Miura, K., Kato, J., Kuwabara, N., Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1 (2004) J Med Genet, 41, pp. 387-393; Faulkner, M.A., Singh, S.P., Neurogenetic disorders and treatment of associated seizures (2013) Pharmacother J Hum Pharmacol Drug Ther, 33, pp. 330-343; Samanta, D., Epilepsy in Angelman syndrome: A scoping review (2021) Brain Dev, 43, pp. 32-44; Wirrell, E.C., Nabbout, R., Recent advances in the drug treatment of Dravet syndrome (2019) CNS Drugs, 33, pp. 867-881; Benedetti-Isaac, J., Torres-Zambrano, M., Alcalá-Cerra, G., Gutiérrez-Paternina, J., Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome (2013) Neurol India, 61, pp. 306-307; Avanzini, G., Manganotti, P., Meletti, S., Moshé, S.L., Panzica, F., Wolf, P., The system epilepsies: A pathophysiological hypothesis. Epilepsia 2012;53:771–8. 10.1111/J.1528-1167.2012.03462.X; McKinsey, G.L., Lindtner, S., Trzcinski, B., Visel, A., Pennacchio, L.A., Huylebroeck, D., Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the fate switch between cortical and striatal interneurons (2013) Neuron, 77, pp. 83-98; van den Berghe, V., Stappers, E., Vandesande, B., Dimidschstein, J., Kroes, R., Francis, A., Directed migration of cortical interneurons depends on the cell-autonomous action of Sip1 (2013) Neuron, 77, pp. 70-82; Tomassy, G.S., Lodato, S., Arlotta, P., A sip of GABA for the cerebral cortex (2013) Neuron, 77, pp. 1-3; Cordelli, D.M., Pellicciari, A., Kiriazopulos, D., Franzoni, E., Garavelli, L., Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? (2013) Epilepsia, 54, pp. 1331-1332; Paz, J.T., Chavez, M., Saillet, S., Deniau, J.-M., Charpier, S., Activity of ventral medial thalamic neurons during absence seizures and modulation of cortical paroxysms by the nigrothalamic pathway (2007) J Neurosci, 27, pp. 929-941; Arakaki, T., Mahon, S., Charpier, S., Leblois, A., Hansel, D., The role of striatal feedforward inhibition in the maintenance of absence seizures (2016) J Neurosci, 36, pp. 9618-9632; Miyamoto, H., Tatsukawa, T., Shimohata, A., Yamagata, T., Suzuki, T., Amano, K., Impaired cortico-striatal excitatory transmission triggers epilepsy (2019) Nat Commun, 10; de Curtis, M., Avoli, M., GABAergic networks jump-start focal seizures (2016) Epilepsia, 57, pp. 679-687; Guzzetta, F., Battaglia, D., Veredice, C., Donvito, V., Pane, M., Lettori, D., Early thalamic injury associated with epilepsy and continuous spike-wave during slow sleep (2005) Epilepsia, 46, pp. 889-900; Babkina, N., Deignan, J.L., Lee, H., Vilain, E., Sankar, R., Giurgea, I., Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing (2016) Eur J Med Genet, 59, pp. 70-74
PY - 2021
Y1 - 2021
N2 - Background: Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants. The aim of this study was to investigate the long-term evolution of the electroclinical phenotype of MWS in a large population. Methods: Forty-individuals with a genetically confirmed diagnosis were enrolled. Three age groups were identified (t1 = 0–4; t2 = 5–12; t3 = >13 years); clinical data and EEG records were collected, analyzed, and compared for age group. Video-EEG recorded seizures were reviewed. Results: Thirty-six of 40 individuals had epilepsy, of whom 35/35 aged >5 years. Almost all (35/36) presented focal seizures at onset (mean age at onset 3.4 ± 2.3 SD) that persisted, reduced in frequency, in 7/22 individuals after the age of 13. Absences occurred in 22/36 (mean age at onset 7.2 ± 0.9 SD); no one had absences before 6 and over 16 years old. Paroxysmal interictal abnormalities in sleep also followed an age-dependent evolution with a significant increase in frequency at school age (p = 0.002) and a reduction during adolescence (p = 0.008). Electrical Status Epilepticus during Sleep occurred in 14/36 (13/14 aged 5–13 years old at onset). Seven focal seizure ictal video-EEGs were collected: all were long-lasting and more visible clinical signs were often preceded by prolonged electrical and/or subtle (erratic head and eye orientation) seizures. Valproic acid was confirmed as the most widely used and effective drug, followed by levetiracetam. Conclusions: Epilepsy is a major sign of MWS with a characteristic, age-dependent, electroclinical pattern. Improvement with adolescence/adulthood is usually observed. Our data strengthen the hypothesis of a GABAergic transmission imbalance underlying ZEB2-related epilepsy. © 2021 Elsevier Inc.
AB - Background: Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants. The aim of this study was to investigate the long-term evolution of the electroclinical phenotype of MWS in a large population. Methods: Forty-individuals with a genetically confirmed diagnosis were enrolled. Three age groups were identified (t1 = 0–4; t2 = 5–12; t3 = >13 years); clinical data and EEG records were collected, analyzed, and compared for age group. Video-EEG recorded seizures were reviewed. Results: Thirty-six of 40 individuals had epilepsy, of whom 35/35 aged >5 years. Almost all (35/36) presented focal seizures at onset (mean age at onset 3.4 ± 2.3 SD) that persisted, reduced in frequency, in 7/22 individuals after the age of 13. Absences occurred in 22/36 (mean age at onset 7.2 ± 0.9 SD); no one had absences before 6 and over 16 years old. Paroxysmal interictal abnormalities in sleep also followed an age-dependent evolution with a significant increase in frequency at school age (p = 0.002) and a reduction during adolescence (p = 0.008). Electrical Status Epilepticus during Sleep occurred in 14/36 (13/14 aged 5–13 years old at onset). Seven focal seizure ictal video-EEGs were collected: all were long-lasting and more visible clinical signs were often preceded by prolonged electrical and/or subtle (erratic head and eye orientation) seizures. Valproic acid was confirmed as the most widely used and effective drug, followed by levetiracetam. Conclusions: Epilepsy is a major sign of MWS with a characteristic, age-dependent, electroclinical pattern. Improvement with adolescence/adulthood is usually observed. Our data strengthen the hypothesis of a GABAergic transmission imbalance underlying ZEB2-related epilepsy. © 2021 Elsevier Inc.
KW - Age dependent pattern
KW - Genetic epilepsy
KW - MWS
KW - ZEB2
U2 - 10.1016/j.yebeh.2021.108315
DO - 10.1016/j.yebeh.2021.108315
M3 - Article
SN - 1525-5050
VL - 124
JO - Epilepsy Behav.
JF - Epilepsy Behav.
M1 - 108315
ER -