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2.1
Early Myoclonic Encephalopathy

Presentation

In the neonatal period (3/3), they presented a typical EEG pattern characterized by bursts of paroxysmal activity separated by episodes of flat or low amplitude tracing (3/3). [research.unipd.it]

D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour. [malattierare.regione.veneto.it]

Aportan dos observaciones personales y otras siete de la literatura donde la epiloia estaba presente. [jns-journal.com]

Neurologic

  • Myoclonus

    Benign myoclonus of early infancy: an imitator of West´s syndrome. J Child Neurol 2001:16:109-12. 48.Donat JF, Wright FS. Clinical imitators of infantile spasms. J Child Neurol 1992;7:395-9. 49.Dravet C, Bureau M, Roger J. [espaciologopedico.com]

    [Benign myoclonus of early infancy: a case report]. No To Hattatsu. 2000;32(6):538-42.Lopez-Pison J, Arana T, Abenia P, Galvan M, Munoz-Albillos M, Pena-Segura JL. [malattierare.regione.veneto.it]

  • Focal Seizure

    Spasms or tonic spasms (2/3) were the main types of seizures at onset, in association with focal hemiclonic seizures (1/3), tonic seizures (1/3) and massive (1/3) or erratic myoclonias (1/3). [research.unipd.it]

Treatment

L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. [link.springer.com]

Surgical treatment of West syndrome. Brain Dev. 2001;23(7):668-76.Takeuchi Y, Takano T, Abe J, Takikita S, Ohno M. Thyrotropin-releasing hormone: role in the treatment of West syndrome and related epileptic encephalopathies. [malattierare.regione.veneto.it]

PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Ann Neurol 1990;27:406-13. 36.Plouin P, Dulac O, Jalin C, Chiron C. Twenty-four-hour ambulatory EEG monitoring in infantile spasms. [espaciologopedico.com]

Prognosis

L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. [link.springer.com]

Long-term prognosis of patients with West syndrome in Japan: medical aspects. Brain Dev. 2001;23(7):692-4.Appleton RE. West syndrome: long-term prognosis and social aspects. Brain Dev. 2001;23(7):688-91.Riikonen R. [malattierare.regione.veneto.it]

Infantile spasms: etiological factors, clinical aspects, and long term prognosis in 200 cases. Eur J Pediatr 1981;135:239-44. 17.Dulac O, Chugani HT, Dalla Bernardina B, eds. Infantile spasms and West syndrome. [espaciologopedico.com]

Also the mental prognosis is particularly poor when cases of tuberous sclerosis develop epileptic seizures between the ages of 1 month and 1 year. [jns-journal.com]

Etiology

Prenatal etiologies of West syndrome. Epilepsia 1993;34:716-22. 16.Matsumoto A, Watanabe K, Negoro T, Sugiura M, Iwase K, Hara K, et al. Infantile spasms: etiological factors, clinical aspects, and long term prognosis in 200 cases. [espaciologopedico.com]

Many etiological factors including hereditary and non-hereditary conditions have been reported. However, in up to a third of all cases determining the underlying cause is not possible. [research.unipd.it]

[Etiology of epilepsy in adolescents]. Rev Neurol. 1999 Jan 1-15;28(1):32-5.Iinuma K. [General principles of treatment and effects of childhood intractable epilepsy]. Rinsho Shinkeigaku. 1999;39(1):75-6.Manonmani V, Tan CT. [malattierare.regione.veneto.it]

Epidemiology

[Epidemiological and clinical study of West syndrome in Nagasaki Prefecture, Japan]. No To Hattatsu. 2001;33(1):15-20.Ormrod D, McClellan K. Topiramate: a review of its use in childhood epilepsy. [malattierare.regione.veneto.it]

The epidemiology of epilepsy: a workshop. NINDS Monograph 14. Washington: US Government Printing Office, 1972:78. 8.Lombroso CT. A prospective study of infantile spasms: clinical and therapeutic correlations. [espaciologopedico.com]

Pathophysiology

Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome. [malattierare.regione.veneto.it]

Prevention

Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome. Brain Dev. 2001;23(7):482-7.Ohtsuka Y, Kobayashi K, Ogino T, Oka E. Spasms in clusters in epilepsies other than typical West syndrome. [malattierare.regione.veneto.it]

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