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4 results on '"A. M. Asunis"'

1. A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls

Author

I. Cursio, N. Ronzano, M. Asunis, M.S. Dettori, S. Cossu, S. Murru, M. Cau, F. Incani, D. Mei, C. Bianchini, M. Scioni, and D. Pruna

Subjects
Self-Limited Focal Epilepsies of Childhood, Self-Limited Epilepsy with Centrotemporal Spikes, Developmental and/or Epileptic Encephalopathy with spike-wave activation in sleep, Genetic testing Developmental disorders, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495
Abstract

We describe a complex family with two couples (two sisters who married two brothers) with consistent social and neuropsychiatric problems, originally from Sardinia. Each couple had three daughters, which shared electroclinical epileptic syndrome and developmental disorders. All patients suffered from mild to moderate intellectual disability, speech difficulties and behavioural disorders. Four out of six patients had epilepsy onset between 3 and 4 years of age. The epileptic history almost reflected the typical clinical course of a self-Limited Focal Epilepsy of Childhood. However, our patients don’t have the complete features characteristic of one of the four specific self-Limited Focal Epilepsies of Childhood; a progressive evolution into a Developmental and/or Epileptic Encephalopathy with spike-wave activation in sleep was observed in the two older sister of the first family, which developed more severe developmental disorder too. In the other epileptic patients, improvement of EEG pattern was not coincident with an improvement of the developmental disorders. Brain MRI, performed in three patients, showed normal findings. Genetic analysis carried out so far (SNP-array, study of Runs of homozygosity, FMR1 triplet-repeat primer-PCR assay, Next Generation Sequencing based gene panel for epilepsy and neurodevelopmental disorders and Exome Sequencing), did not provide useful elements for an aetiological diagnosis.

Published
2022
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2. A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls

Author

I. Cursio, N. Ronzano, M. Asunis, M.S. Dettori, S. Cossu, S. Murru, M. Cau, F. Incani, D. Mei, C. Bianchini, M. Scioni, and D. Pruna

Subjects
Behavioral Neuroscience, Neurology, Neurology (clinical)
Abstract

We describe a complex family with two couples (two sisters who married two brothers) with consistent social and neuropsychiatric problems, originally from Sardinia. Each couple had three daughters, which shared electroclinical epileptic syndrome and developmental disorders. All patients suffered from mild to moderate intellectual disability, speech difficulties and behavioural disorders. Four out of six patients had epilepsy onset between 3 and 4 years of age. The epileptic history almost reflected the typical clinical course of a self-Limited Focal Epilepsy of Childhood. However, our patients don't have the complete features characteristic of one of the four specific self-Limited Focal Epilepsies of Childhood; a progressive evolution into a Developmental and/or Epileptic Encephalopathy with spike-wave activation in sleep was observed in the two older sister of the first family, which developed more severe developmental disorder too. In the other epileptic patients, improvement of EEG pattern was not coincident with an improvement of the developmental disorders. Brain MRI, performed in three patients, showed normal findings. Genetic analysis carried out so far (SNP-array, study of Runs of homozygosity, FMR1 triplet-repeat primer-PCR assay, Next Generation Sequencing based gene panel for epilepsy and neurodevelopmental disorders and Exome Sequencing), did not provide useful elements for an aetiological diagnosis.

Published
2021

3. Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Author

Laura Crisponi, Paolo Uva, M Asunis, Giorgio Fotia, D Pruna, S Cossu, Francesco Cucca, Ivana Persico, Gianmauro Cuccuru, M Oppo, Rossano Atzeni, Stefano Onano, and Andrea Angius

Subjects
0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Sleep disorder, Psychomotor retardation, business.industry, medicine.disease, Hypotonia, Cachexia, 03 medical and health sciences, Epilepsy, 030104 developmental biology, Genetics, Medicine, medicine.symptom, Allele, business, Genetics (clinical), Exome sequencing
Abstract

Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. It is caused by mutations in the NALCN gene that encodes a voltage-independent, cation channel permeable to NM, K+ and Ca2+ and forms a channel complex with UNCSO and UNC79. So far, only 4 homozygous mutations have been found in 11 cases belonging to 4 independent consanguineous families. We studied a Sardinian family with 2 siblings presenting dysmorphic facies, hypotonia, psychomotor retardation, epilepsy, absent speech, sleep disturbance, hyperkinetic movement disorder, cachexia and chronic constipation. Polymorphic generalized seizures started at 4 and 6 years, respectively. Anti-epileptic drugs (AEDs) therapy was efficient for female proband's epilepsy, but the male still has weekly seizures. Whole exome sequencing identified 2 novel truncating mutations in NALCN allowing to assess the clinical phenotype to IHPRF1. This is the fifth family reported worldwide, and these are the first European cases with IHPRF1 syndrome with biallelic truncating mutations of NALCN.

Published
2018

4. GENETIC DISEASES AND MOLECULAR GENETICS

Author

C. Legendre, D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber, L. Greenbaum, T. Goodship, H. Haller, M. Herthelius, M. Hourmant, C. Licht, B. Moulin, N. Sheerin, A. Trivelli, C. L. Bedrosian, C. Loirat, S. Babu, T. Jungraithmayr, Y. Lebranchu, M. Riedl, A. O. Gaber, C. Bedrosian, P. Muus, K. Douglas, G. Remuzzi, A. Kourouklaris, K. Ioannou, I. Athanasiou, K. Demetriou, A. Panagidou, M. Zavros, N. Y. Rodriguez C, M. Blasco, C. Arcal, L. F. Quintana, S. Rodriguez de Cordoba, J. M. Campistol, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, F. Pesce, S. N. Cox, G. Serino, G. De Palma, F. P. Sallustio, F. Schena, M. Falchi, M. Pieri, C. Stefanou, A. Zaravinos, K. Erguler, G. Lapathitis, H. Dweep, C. Sticht, N. Anastasiadou, I. Zouvani, K. Voskarides, N. Gretz, C. C. Deltas, A. Ruiz, O. Bonny, F. Sallustio, C. Curci, S. Cox, E. Kemter, S. Sklenak, B. Aigner, R. Wanke, T. M. Kitzler, J. L. Moskowitz, S. E. Piret, K. Lhotta, A. Tashman, E. Velez, R. V. Thakker, P. Kotanko, J. Leierer, M. Rudnicki, P. Perco, C. Koppelstaetter, G. Mayer, M. J. N. Sa, S. Alves, H. Storey, F. Flinter, P. J. Willems, F. Carvalho, J. Oliveira, M. Arsali, L. Papazachariou, P. Demosthenous, A. Lazarou, M. Hadjigavriel, C. Stavrou, L. Yioukkas, C. Deltas, A. Pierides, M. Kkolou, H. R. Toka, S. Dibartolo, B. Lanske, E. M. Brown, M. R. Pollak, A. Familiari, B. Zavan, S. Sanna Cherchi, A. Fabris, R. Cristofaro, G. Gambaro, A. D'Angelo, F. Anglani, H. Toka, D. Mount, M. Pollak, G. Curhan, G. Sengoge, T. Bajari, A. Kupczok, A. von Haeseler, M. Schuster, W. Pfaller, P. Jennings, A. Weltermann, S. Blake, G. Sunder-Plassmann, A. Kerti, R. Csohany, L. Wagner, E. Javorszky, E. Maka, T. Tulassay, K. Tory, J. Kingswood, N. Nikolskaya, J. Mbundi, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, T. Brechenmacher, K. Stein, J. Bissler, D. Franz, B. Zonnenberg, W. Cheung, J. Wang, D. Lam, K. Budde, L. Ivanitskiy, E. Sowershaewa, T. Krasnova, L. Samokhodskaya, M. Safarikova, R. Jana, S. Jitka, L. Obeidova, M. Kohoutova, V. Tesar, H. Evrengul, P. Ertan, E. Serdaroglu, S. Yuksel, S. Mir, E. Yang n Ergon, A. Berdeli, A. Zawada, K. Rogacev, B. Rotter, P. Winter, D. Fliser, G. Heine, S. Bataille, V. Moal, Y. Berland, L. Daniel, C. Rosado, E. Bueno, P. Fraile, C. Lucas, P. Garcoa-Cosmes, J. M. Tabernero, R. Gonzalez, P. Garcia-Cosmes, M. Silska-Dittmar, K. Zaorska, A. Malke, A. Musielak, D. Ostalska-Nowicka, J. Zachwieja, V. K d r, E. Uz, A. Yigit, A. Altuntas, B. Yigit, S. Inal, M. Sezer, R. Yilmaz, B. Visciano, C. Porto, E. Acampora, R. Russo, E. Riccio, I. Capuano, G. Parenti, A. Pisani, S. Feriozzi, A. Perrin, M. West, K. Nicholls, J. Torras, M. Cybulla, M. Conti, A. Angioi, M. Floris, P. Melis, A. M. Asunis, D. Piras, A. Pani, D. Warnock, A. Guasch, C. Thomas, C. Wanner, R. Campbell, B. Vujkovac, I. Okur, G. Biberoglu, F. Ezgu, L. Tumer, A. Hasanoglu, Z. Bicik, Y. Akin, M. Mumcuoglu, T. Ecder, C. Paliouras, G. Mattas, N. Papagiannis, G. Ntetskas, F. Lamprianou, N. Karvouniaris, and P. Alivanis

Subjects
Genetics, Transplantation, medicine.medical_specialty, Nephrology, business.industry, Molecular genetics, medicine, business
Published
2014

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