Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Ptáček, Louis J.; Tawil, Rabi; Griggs, Robert C.; Engel, Andrew G.; Layzer, Robert B.; Kwieciński, Hubert; McManis, Philip G.; Santiago, Lorna; Moore, Mary; Fouad, Gameil T.; Bradley, Paige K.; Leppert, M.

doi:10.1016/0092-8674(94)90135-x

Cited by 394 publications

(196 citation statements)

References 35 publications

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“…The slow voltage-dependent inactivation resembles the slow inactivation (C_type) found in potassium and sodium channels rather than the more rapid chain and ball mechanism (N_type) of these channels (Hoshi et al 1991;Featherstone et al 1996;Liu et al 1996;Kontis & Goldin, 1997). The characteristics of this type of inactivation have not yet been fully determined in any skeletal muscle preparation and particularly little information is available from human preparations which have recently attracted attention due to the discovery of L_type Ca¥ channelrelated diseases (Jurkat-Rott et al 1994;Ptacek et al 1994;Monnier et al 1997). A few studies describe voltagedependent activation and inactivation in human muscle cells (Rivet et al 1990(Rivet et al , 1992Garcia et al 1992;Sipos et al 1995;Lehmann-Horn et al 1995;Jurkat-Rott et al 1998) but no data are available on the dynamics of the transition to and the recovery from the inactive state(s).…”

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confidence: 99%

Kinetics of inactivation and restoration from inactivation of the L‐type calcium current in human myotubes

Harasztosi

Sipos

Kovács

et al. 1999

The Journal of Physiology

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1. Inactivation and recovery kinetics of L_type calcium currents were measured in myotubes derived from satellite cells of human skeletal muscle using the whole cell patch clamp technique. 2. The time course of inactivation at potentials above the activation threshold was obtained from the decay of the current during 15 s depolarizing pulses. At subthreshold potentials, prepulses of different durations, followed by +20 mV test pulses, were used. The time course could be well described by single exponential functions of time. The time constant decreased from 17·8 ± 7·5 s at −30 mV to 1·78 ± 0·15 s at +50 mV. 3. Restoration from inactivation caused by 15 s depolarization to +20 mV was slowed by depolarization in the restoration interval. The time constant increased from 1·11 ± 0·17 s at −90 mV to 7·57 ± 2·54 s at −10 mV. 4. Restoration showed different kinetics depending on the duration of the conditioning depolarization. While the time constant was similar at restoration potentials of −90 and −50 mV after a 1 s conditioning prepulse, it increased with increasing prepulse duration at −50 mV and decreased at −90 mV. 5. The experiments showed that the rates of inactivation and restoration of the L_type calcium current in human myotubes were not identical when observed at the same potential. The results indicate the presence of more than one inactivated state and point to different voltage-dependent pathways for inactivation and restoration.8422

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confidence: 99%

Kinetics of inactivation and restoration from inactivation of the L‐type calcium current in human myotubes

Harasztosi

Sipos

Kovács

et al. 1999

The Journal of Physiology

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“…Point mutations in CACNA1S or SCN4A, which encode the skeletal muscle voltage-gated calcium and sodium channels, associate with HypoPP. [1][2][3][4][5][6][7][8][9][10] However, in most studies at least 20% of cases remain genetically undefined. 8,11,12 Sodium and calcium channels have homologous pore-forming ␣ subunits, each containing four domains containing six transmembrane segments.…”

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Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

et al. 2009

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“…HypoKPP exists in familial or non-familial form. Familial hypoKPP is inherited in an autosomal-dominant pattern and is predominantly caused by mutations in genes encoding for a skeletal muscle-specific voltage-gated Na ϩ channel Na v 1.4 (SCN4A) or the L-type Ca 2ϩ channel Ca v 1.1 (CACNA1S) (3,4). About 10% of cases of familial hypoKPP remain genetically undefined (5).…”

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confidence: 99%

Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis

Cheng

Lin

et al. 2011

Journal of Biological Chemistry

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Cited by 394 publications

References 35 publications

Kinetics of inactivation and restoration from inactivation of the L‐type calcium current in human myotubes

Kinetics of inactivation and restoration from inactivation of the L‐type calcium current in human myotubes

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis

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