Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes

Fátima Lopes, Mafalda Barbosa, Adam Ameur, +17

Journal of Medical Genetics

Idiopathic Epilepsies with Seizures Precipitated by Fever and <i>SCN1A</i> Abnormalities

Carla Marini, Davide Mei, Teresa Temudo, +14

Epilepsia

Epilepsy and cerebral palsy: Characteristics and trends in children born in 1976–1998

Élodie Sellier, Peter Uldall, Eulália Calado, +4

European Journal of Paediatric Neurology

Neurodevelopmental DisordersBrain DevelopmentNeurological DisorderMotor DevelopmentPediatrics +9

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

Teresa Temudo, Elisabete Ramos, Karin Ziliotto Dias, +15

Movement Disorders

Atypical phenotype in two patients with LAMA2 mutations

Joana Marques, Sofia Duarte, Sónia Costa, +8

Neuromuscular Disorders

Genetic DisorderGeneticsPathologyMedicineLama2 Mutations

Fractures in children and adolescents with spina bifida: the experience of a Portuguese tertiary‐care hospital

Humberto Marreiros, Luísa Monteiro, Clara Loff, +1

Developmental Medicine & Child Neurology

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Teresa Temudo, Mònica Santos, Elisabete Ramos, +20

Brain and Development

Mendelian DisorderGenetic DisorderRett SyndromeGeneticsMecp2 Mutations +6

Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy

Alberto Leal, Vitorina Passão, Eulália Calado, +2

Clinical Neurophysiology

Hypothalamic Hamartoma EpilepsyNeurophysiologyNeuroanatomyEeg Signal ProcessingNeurophysiological Biomarkers +7

Anatomical and physiological basis of continuous spike–wave of sleep syndrome after early thalamic lesions

Alberto Leal, Eulália Calado, José Pedro Vieira, +7

Epilepsy & Behavior

Sleep DisordersSleep MedicineSleepContinuous Spike–waveSleep Disorder +12

Analysis of the dynamics and origin of epileptic activity in patients with tuberous sclerosis evaluated for surgery of epilepsy

Alberto Leal, Ana Isabel Dias, José Pedro Vieira, +3

Clinical Neurophysiology

Neurological DisorderMotor ControlNeurologyNeuroscienceCentral Nervous System +5