Maria Grazia Figura1, Antonietta Coppola2, Maria Bottitta1, Giuseppe Calabrese1, Lucia Grillo3, Daniela Luciano3, Luigi Del Gaudio2, Claudia Torniero4, Salvatore Striano2, Maurizio Elia5. 1. Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy. 2. Epilepsy Centre, Department of Neurology, Federico II University of Naples, Naples, Italy. 3. Laboratory of Genetic Diagnosis, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy. 4. Medical Genetics, Department of Women's & Children's Health, University of Padua, Padua, Italy. 5. Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy. Electronic address: melia@oasi.en.it.
Abstract
PURPOSE: The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic disorder characterized by hypotonia, severely impaired development of speech and language, autistic-like behaviour, and minor dysmorphic features. Neurologic problems may include seizures of different types, such as febrile, generalized tonic-clonic, focal, and absence seizures. No peculiar EEG features have been associated with 22q13 deletion syndrome to date. In order to verify if a peculiar clinical and EEG pattern is present in 22q13.3 deletion syndrome, we studied six Italian patients with this chromosome abnormality. METHOD: Array CGH analysis was carried out in the six subjects (1 male, 5 females, age range 11-30 years, median 19.5). They underwent a complete general and neurologic examinations. The EEG study consisted of at least one awake and one nap-sleep video-EEG recordings and evaluation of other EEGs performed elsewhere. RESULTS: Three subjects suffered from myoclonic or generalized tonic-clonic seizures with a rather benign course; all showed multifocal paroxysmal abnormalities on EEG recording, predominant over the frontal-temporal regions, activated during sleep. CONCLUSION: 22q13.3 deletion syndrome seems to be associated, at least in a subgroup of patients, with a peculiar clinical and EEG pattern, characterized by a childhood epilepsy with a rather benign evolution and with multifocal paroxysmal EEG abnormalities activated by sleep.
PURPOSE: The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic disorder characterized by hypotonia, severely impaired development of speech and language, autistic-like behaviour, and minor dysmorphic features. Neurologic problems may include seizures of different types, such as febrile, generalized tonic-clonic, focal, and absence seizures. No peculiar EEG features have been associated with 22q13 deletion syndrome to date. In order to verify if a peculiar clinical and EEG pattern is present in 22q13.3 deletion syndrome, we studied six Italian patients with this chromosome abnormality. METHOD: Array CGH analysis was carried out in the six subjects (1 male, 5 females, age range 11-30 years, median 19.5). They underwent a complete general and neurologic examinations. The EEG study consisted of at least one awake and one nap-sleep video-EEG recordings and evaluation of other EEGs performed elsewhere. RESULTS: Three subjects suffered from myoclonic or generalized tonic-clonic seizures with a rather benign course; all showed multifocal paroxysmal abnormalities on EEG recording, predominant over the frontal-temporal regions, activated during sleep. CONCLUSION: 22q13.3 deletion syndrome seems to be associated, at least in a subgroup of patients, with a peculiar clinical and EEG pattern, characterized by a childhood epilepsy with a rather benign evolution and with multifocal paroxysmal EEG abnormalities activated by sleep.
Authors: Mariagiovanna Malara; Anne-Kathrin Lutz; Berra Incearap; Helen Friedericke Bauer; Silvia Cursano; Katrin Volbracht; Joanna Janina Lerner; Rakshita Pandey; Jan Philipp Delling; Valentin Ioannidis; Andrea Pérez Arévalo; Jaime Eugenin von Bernhardi; Michael Schön; Jürgen Bockmann; Leda Dimou; Tobias M Boeckers Journal: Cell Mol Life Sci Date: 2022-06-20 Impact factor: 9.207
Authors: Sergio Serrada-Tejeda; Rosa M Martínez-Piédrola; Nuria Máximo-Bocanegra; Patricia Sánchez-Herrera-Baeza; Marta Pérez-de-Heredia-Torres Journal: Front Neurosci Date: 2022-07-04 Impact factor: 5.152
Authors: Hong Yan Liu; Jia Huang; Tao Li; Dong Wu; Hong Dan Wang; Yue Wang; Tao Wang; Liang Jie Guo; Qian Nan Guo; Fei Fei Huang; Rui Li Wang; Ying Tai Wang Journal: Mol Cytogenet Date: 2016-04-19 Impact factor: 2.009