• <em>DHDDS</em>-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder
• A <em>de novo</em> missense mutation of <em>GABRB2</em> causes early myoclonic encephalopathy
• A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital
• A case of infantile Tay-Sachs disease with late onset spasms
• A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation
• A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation
• A new heterozygous compound mutation in the <em>CTSA</em> gene in galactosialidosis
• A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy
• A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
• A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation
• A variety of abnormal movements in 13 cases with nutritional cobalamin deficiency in infants
• Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature
• Benign spasms of infancy or benign myoclonus of early infancy: polygraph-EEG recordings
• Benign spasms of infancy: a mimicker of infantile epileptic disorders
• CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases
• Childhood movement disorders: Clinicoetiological pattern and long-term follow-up at tertiary care center from South India
• Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation
• Clinical profile and treatment outcome of epilepsy syndromes in children: A hospital-based study in Eastern Nepal
• Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes
• CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family
• CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report
• Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype
• Continuous myocloni and tonic spasms in a 2-month-old infant with enterovirus 71 brain stem encephalitis
• Differential diagnoses of West syndrome
• Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
• Early occurrence of photic-reflex myoclonus in CDKL5-deficiency disorder
• Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes
• Early-onset Lafora body disease
• Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations
• Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
• Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy
• Epileptic spasms in congenital disorders of glycosylation
• Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
• Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy
• First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations
• From genotype to phenotype in Dravet disease
• Genetic Epilepsy Syndromes
• Genetic forms of epilepsies and other paroxysmal disorders
• GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments
• Head atonic attacks: a new type of benign non-epileptic attack in infancy strongly mimicking epilepsy
• High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
• Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability
• Human pathology in NCL
• Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations
• Infantile tremor syndrome secondary to peroral vitamin B12 replacement therapy: a report of two cases with myoclonus
• Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation
• Involuntary Movements in Cobalamin Deficiency
• Involuntary movements in infantile cobalamin deficiency appearing during treatment
• IRF2BPL: A new genotype for progressive myoclonus epilepsies
• KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
• Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features
• Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature
• Lathyrism in Spain: Lessons from 68 publications following the 1936-39 Civil War
• Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures
• Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A
• Metabolic causes of pediatric developmental &amp; epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort
• Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
• Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies
• Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin
• Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency
• Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H
• Neurological features of 14q24-q32 interstitial deletion: report of a new case
• Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations
• Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt
• Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease
• Novel compound heterozygous TBC1D24 mutations in a boy with infantile focal myoclonic epilepsy and literature review
• Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan
• Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report
• Paroxysmal non-epileptic events in infancy: five cases with typical features
• Paroxysmal non-epileptic events in infants and toddlers: A phenomenologic analysis
• Paroxysmal nonepileptic events in children with epilepsy
• Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus
• Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes
• Phenotypic insights into ADCY5-associated disease
• PIGA mutations cause early-onset epileptic encephalopathies and distinctive features
• PRICKLE1-related early onset epileptic encephalopathy
• Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T&gt;C
• PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
• Repetitive sleep starts: An important differential diagnosis of infantile spasms
• Role of high-density EEG (hdEEG) in pre-surgical epilepsy evaluation in children: case report and review of the literature
• SCN1B-linked early infantile developmental and epileptic encephalopathy
• Sialidoses
• Socio-demographic characteristics and psychopathological assessment in a sample of 13 paediatric patients with functional neurological disorders: A preliminary report
• Spectrum of Movement Disorders in Niemann-Pick Disease Type C
• Spinal segmental myoclonus resembling "belly dance" in a pregnant woman
• Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine
• TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up
• The clinical and electroencephalographic characteristics of early myoclonic encephalopathy
• The early electroclinical manifestations of infantile spasms: A video EEG study
• The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
• The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature
• The phenotype of <em>SCN8A</em> developmental and epileptic encephalopathy
• Tremor-like subcortical myoclonus in STXBP1 encephalopathy
• Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature
• Vigabatrin-associated hyperkinetic movements in two children with epileptic spasms: Case reports and video phenomenology description
• WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
• West syndrome associated with epileptic negative myoclonus
• West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature
• Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families
• YouTube as a source of information for children with paroxysmal episodes