Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals

[1]  Debopam Samanta.  Epilepsy in Angelman syndrome: A scoping review , 2020, Brain and Development.

[2]  K. Iwai,et al.  Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report , 2020, Epilepsy & behavior reports.

[3]  E. Wirrell,et al.  Recent Advances in the Drug Treatment of Dravet Syndrome , 2019, CNS Drugs.

[4]  S. Savasta,et al.  Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study. , 2019, Sleep medicine.

[5]  K. Yamakawa,et al.  Impaired cortico-striatal excitatory transmission triggers epilepsy , 2019, Nature Communications.

[6]  V. Tarabykin,et al.  Role of Zeb2/Sip1 in neuronal development , 2019, Brain Research.

[7]  K. Devriendt,et al.  Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care , 2018, Genetics in Medicine.

[8]  Hoon-Chul Kang,et al.  Mowat-Wilson syndrome presenting with fever-associated seizures. , 2017, Epileptic disorders : international epilepsy journal with videotape.

[9]  F. Fabbro,et al.  Electrical status epilepticus during sleep in Mowat–Wilson syndrome , 2017, Brain and Development.

[10]  J. H. Cross,et al.  Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology , 2017, Epilepsia.

[11]  K. Devriendt,et al.  Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients , 2016, Genetics in Medicine.

[12]  D. Hansel,et al.  The Role of Striatal Feedforward Inhibition in the Maintenance of Absence Seizures , 2016, The Journal of Neuroscience.

[13]  M. Avoli,et al.  GABAergic networks jump‐start focal seizures , 2016, Epilepsia.

[14]  Joshua L. Deignan,et al.  Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. , 2016, European journal of medical genetics.

[15]  C. Kim,et al.  Mowat-Wilson syndrome: neurological and molecular study in seven patients. , 2015, Arquivos de neuro-psiquiatria.

[16]  K. Yokochi,et al.  The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations , 2014, American journal of medical genetics. Part A.

[17]  L. Garavelli,et al.  Epilepsy in Mowat‐Wilson syndrome: Is it a matter of GABA? , 2013, Epilepsia.

[18]  S. Lyonnet,et al.  ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. , 2013, Human molecular genetics.

[19]  G. Alcalá-Cérra,et al.  Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. , 2013, Neurology India.

[20]  M. Faulkner,et al.  Neurogenetic Disorders and Treatment of Associated Seizures , 2013, Pharmacotherapy.

[21]  F. Licata,et al.  Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype , 2013, American journal of medical genetics. Part A.

[22]  A. Visel,et al.  Dlx1&2-Dependent Expression of Zfhx1b (Sip1, Zeb2) Regulates the Fate Switch between Cortical and Striatal Interneurons , 2013, Neuron.

[23]  S. Lodato,et al.  A Sip of GABA for the Cerebral Cortex , 2013, Neuron.

[24]  G. Fishell,et al.  Directed Migration of Cortical Interneurons Depends on the Cell-Autonomous Action of Sip1 , 2013, Neuron.

[25]  Peter Wolf,et al.  The system epilepsies: A pathophysiological hypothesis , 2012, Epilepsia.

[26]  S. Bernasconi,et al.  Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature , 2009, American journal of medical genetics. Part A.

[27]  L. Garavelli,et al.  Mowat-Wilson syndrome , 2007, Orphanet journal of rare diseases.

[28]  Meredith Wilson,et al.  ZFHX1B mutations in patients with Mowat‐Wilson syndrome , 2007, Human mutation.

[29]  Jean-Michel Deniau,et al.  Activity of Ventral Medial Thalamic Neurons during Absence Seizures and Modulation of Cortical Paroxysms by the Nigrothalamic Pathway , 2007, The Journal of Neuroscience.

[30]  J. Graham,et al.  Clinical features and management issues in Mowat–Wilson syndrome , 2006, American journal of medical genetics. Part A.

[31]  M. Pane,et al.  Early Thalamic Injury Associated with Epilepsy and Continuous Spike–Wave during Slow Sleep , 2005, Epilepsia.

[32]  K. Tanaka,et al.  Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1 , 2004, Journal of Medical Genetics.

[33]  M. Goossens,et al.  Mowat-Wilson syndrome , 2003, Journal of Medical Genetics.

[34]  B. Kerr,et al.  Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. , 1998, Journal of medical genetics.