LETTER TO THE EDITOR Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy
نویسندگان
چکیده
1 Paediatric Neurology and Muscular Diseases Unit, Institute “G. Gaslini”, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy 2 Laboratory of Neurogenetics, Paediatric Neurology and Muscular Diseases Unit, Institute “G. Gaslini”, Genova, Italy 3 Epilepsy Centre, Department of Neurological Sciences, Federico II University, Napoli; Italy
منابع مشابه
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
We characterize a consanguineous Egyptian family with an autosomal recessively inherited familial cortical myoclonic tremor and epilepsy. We used multipoint linkage analysis to map the causative mutation to a 12.7 megabase interval within 1q31.3-q32.2 with a log of odds score of 3.6. For further investigation of the linked region in an efficient and unbiased manner, we performed exome sequencin...
متن کاملAutosomal Dominant Cortical Tremor, Myoclonus, and Epilepsy Syndrome mimicking Juvenile Myoclonic Epilepsy.
INTRODUCTION Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) syndrome is a genetically heterogeneous and under-recognized disease characterized by tremulous movements mimicking essential tremor, myoclonus, and rare generalized tonic-clonic seizures. Here we described the clinical and electrophysiological features of three siblings with ADCME syndrome mimicking juvenile myocl...
متن کاملLETTER TO THE EDITOR Reply: Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy
Sir, We would like to thank Striano et al. (2013) for their remarks on our paper and would like to comment on some of the mentioned points. We agree that it is important to pay close attention to the correct classification of new syndromes such as familial cortical myoclonic tremor with epilepsy (FCMTE) as any inconsistencies will hamper the discovery of the underlying pathophysiology. Summing ...
متن کاملLogopenic syndrome and corticobasal dysfunction in a “benign” type 3 familial cortical myoclonic tremor with epilepsy
Myoclonic epilepsies are frequently related to mitochondrial disorders, lysosomal disorders and proteinopathic neurodegenerative diseases. Familial cortical myoclonic tremor with epilepsy (FCMTE) is a genetic form of myoclonic epilepsy. FCMTE is defined by an autosomal dominant inheritance, adult onset cortical myoclonic tremor and inconstant seizures. Electrophysiologic examinations show corti...
متن کاملFamilial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review
Background Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clin...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2013